Identification of phenotype group of two homozygous individuals of variant of interest

Structural Variation
1

Dear gnomAD team,

Thank you all for your effort in putting up this amazing website and database.

I’m currently working on a mutation of a IBD patient in the gene of interest.

With the new version of gnomAD we could see in your database, that there are two individuals homozygous for the mutation of interest (one male of the South Asian and one female of the European ancestry group). As of I can see, it is not stated to which Phenotype group these two individuals belong to.

Would it be possible for you to check this mutation and would you be able to tell me to which phenotype group those two individuals classify?

Gene: ITGAM - integrin subunit alpha M
SNV: 16-31297854 - C-T (GRCh38), p.Thr536Met (ENST00000544665.9)
Two individuals homozygous for the mutation: 1 male, South Asian; 1 female, European

Thank you so much for your effort and help.

Best regards,
Madleen

2

Unfortunately we do not have individual phenotypes for samples in gnomAD.