Submissions for variant NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)

gnomAD frequency: 0.79149  dbSNP: rs854777

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hearing Loss Variant Curation Expert Panel	RCV002228153	SCV002512121	benign	Nonsyndromic genetic hearing loss	2021-06-16	reviewed by expert panel	curation	The filtering allele frequency (the lower threshold of the 95% CI of 15730/17934) of the p.Cys1977Arg variant in the MYO15A gene is 86.6% for African chromosomes (including 6913 homozygous observations) by gnomAD v2.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : BA1.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038976	SCV000062654	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Cys1977Arg in Exon 26 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 23.0% (1535/6674) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs854777).
PreventionGenetics, part of Exact Sciences	RCV000038976	SCV000312650	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038976	SCV000339941	benign	not specified	2016-02-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613633	SCV000401163	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001618235	SCV001843018	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613633	SCV002015854	benign	Autosomal recessive nonsyndromic hearing loss 3	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001618235	SCV002402436	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618235	SCV005248580	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613633	SCV000733574	benign	Autosomal recessive nonsyndromic hearing loss 3		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038976	SCV001954343	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038976	SCV001976195	benign	not specified		no assertion criteria provided	clinical testing