Submissions for variant NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)

gnomAD frequency: 0.00093  dbSNP: rs201337011

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000310107	SCV000341413	benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365020	SCV000414403	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000310107	SCV000966467	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala811Val in Exon 21 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (18/3216) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).
Baylor Genetics	RCV001336652	SCV001530091	uncertain significance	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	2018-04-11	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001564648	SCV001787845	likely benign	not provided	2020-12-04	criteria provided, single submitter	clinical testing
Invitae	RCV001564648	SCV003285672	benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930137	SCV004755863	benign	MYH14-related condition	2019-09-10	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).