Submissions for variant NM_001145809.2(MYH14):c.2334C>A (p.Leu778=)

gnomAD frequency: 0.00006  dbSNP: rs190941610

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151185	SCV000199011	likely benign	not specified	2013-10-05	criteria provided, single submitter	clinical testing	Leu778Leu in Exon 19 of MYH14: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/200 or 0.5% South ern Han Chinese chromosomes from a broad population screened by the 1000 Genomes Project (http://www.1000genomes.org; dbSNP rs190941610).
Illumina Laboratory Services, Illumina	RCV000363998	SCV000414400	likely benign	Autosomal dominant nonsyndromic hearing loss 4A	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 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.
GeneDx	RCV001589004	SCV001826305	likely benign	not provided	2019-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001589004	SCV003280950	benign	not provided	2023-11-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004742279	SCV005350415	likely benign	MYH14-related disorder	2024-08-05	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).