Submissions for variant NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)

gnomAD frequency: 0.00205  dbSNP: rs200146361

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155191	SCV000204877	likely benign	not specified	2017-01-13	criteria provided, single submitter	clinical testing	p.Arg1763Trp in exon 20 of MYO15A: This variant is not expected to have clinical significance because it has been identified in 0.6% (42/6614) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200146361).
Illumina Laboratory Services, Illumina	RCV001000460	SCV000401153	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.
CeGaT Center for Human Genetics Tuebingen	RCV000487626	SCV000575094	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	MYO15A: BS1:Supporting
Labcorp Genetics (formerly Invitae), Labcorp	RCV000487626	SCV001023230	likely benign	not provided	2024-11-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000460	SCV001157303	benign	Autosomal recessive nonsyndromic hearing loss 3	2023-09-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000487626	SCV001784308	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32860223, 30180840, 30245029, 24123792)
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000487626	SCV001956710	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487626	SCV001975921	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927505	SCV004739460	likely benign	MYO15A-related disorder	2020-02-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).