Submissions for variant NM_001145809.2(MYH14):c.1026G>A (p.Pro342=)

gnomAD frequency: 0.00029  dbSNP: rs368124508

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218249	SCV000270433	likely benign	not specified	2015-02-26	criteria provided, single submitter	clinical testing	p.Pro342Pro in exon 10 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/9734 African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org).
Illumina Laboratory Services, Illumina	RCV000300984	SCV000414379	uncertain significance	Autosomal dominant nonsyndromic hearing loss 4A	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.
Invitae	RCV000930406	SCV001076059	likely benign	not provided	2023-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000930406	SCV001812414	likely benign	not provided	2020-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937830	SCV004765286	likely benign	MYH14-related disorder	2019-11-14	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).