Submissions for variant NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)

gnomAD frequency: 0.00071  dbSNP: rs199910006

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155158	SCV000204844	likely benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing	p.Gly132Ser in exon 2 of MYH14: This variant is not expected to have clinical si gnificance because it is not conserved in mammals, the wallaby has a serine (Ser ) at this position, and it has been identified in 0.2% (26/13784) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs199910006).
Illumina Laboratory Services, Illumina	RCV001129343	SCV001288859	benign	Autosomal dominant nonsyndromic hearing loss 4A	2017-05-24	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001550537	SCV001472227	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001550537	SCV001770876	uncertain significance	not provided	2021-09-22	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV001550537	SCV002431855	likely benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001550537	SCV004140500	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	MYH14: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003945233	SCV004763726	likely benign	MYH14-related condition	2020-07-28	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV001550537	SCV001920045	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001550537	SCV001954580	likely benign	not provided		no assertion criteria provided	clinical testing