Submissions for variant NM_016239.4(MYO15A):c.876C>T (p.Pro292=)

gnomAD frequency: 0.00039  dbSNP: rs368755362

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219642	SCV000269331	benign	not specified	2015-05-07	criteria provided, single submitter	clinical testing	p.Pro292Pro in exon 2 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (95/8438) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs368755362).
Illumina Laboratory Services, Illumina	RCV000407530	SCV000401096	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001722149	SCV000725228	benign	not provided	2019-10-08	criteria provided, single submitter	clinical testing
Invitae	RCV001722149	SCV002366357	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing