Submissions for variant NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)

gnomAD frequency: 0.00413  dbSNP: rs182293382

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223138	SCV000270503	likely benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing	p.Cys854Cys in exon 2 of MYO15A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.7% (4/552) of Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs182293382).
PreventionGenetics, part of Exact Sciences	RCV003891794	SCV000312640	benign	MYO15A-related condition	2020-02-27	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000351080	SCV000401115	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	2018-01-13	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	RCV000954505	SCV000717887	benign	not provided	2018-12-10	criteria provided, single submitter	clinical testing
Invitae	RCV000954505	SCV001101141	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954505	SCV001501659	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MYO15A: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000351080	SCV004562988	benign	Autosomal recessive nonsyndromic hearing loss 3	2023-09-13	criteria provided, single submitter	clinical testing