PRKCE variant 2-46001442 - G-A (GRCh38)

General
1

Dear gnomAD team,

My name is Dr. Andrea Accogli, and I am a clinician–researcher at McGill University working on a project involving PRKCE-related neurodevelopmental disorders.

In our cohort, we identified several individuals with de novo PRKCE variants, including the variant chr2:46001442 G>A (GRCh38), which is reported in gnomAD with an allele count of 2. Affected individuals carrying this variant present with developmental delay, brain malformations, and epilepsy, and we have functional data supporting its pathogenicity.

I am writing to inquire whether the individuals carrying this variant in gnomAD are part of the non-neurological cohort or whether they have any neurodevelopmental or neurological diagnoses. If this is the case, I would also be grateful to know whether it might be possible to be connected with the submitting clinician or institution for potential collaboration or case inclusion in our study.

Thank you very much for your time and consideration.

With best regards,

Andrea Accogli, MD

Division of Medical Genetics

McGill University

2

Unfortunately, for many reasons, including consent and data usage restrictions, we do not have (and cannot share) phenotype information. We also cannot share information about the cohort or project of origin for data within gnomAD.

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3

Thank you for your reply. Would it be possible just to know if the 2 individuals with this variant are affected or unaffected ? Is there a way to visualize this in gnomad and filter ?
Thanks again.

4

The gnomAD resource does not currently have permission, access, or staffing to investigate the availability of phenotype data for individual samples nor the consent status to share that data. As such, we are unable to provide any information about the clinical status of samples in gnomAD.

5

Andrea, Great work! What is the function for this variant?

Shicheng