Submissions for variant NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)

gnomAD frequency: 0.00037  dbSNP: rs201515738

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000388475	SCV000414429	uncertain significance	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, 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.
GeneDx	RCV001660683	SCV001874267	uncertain significance	not provided	2021-08-03	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae	RCV001660683	SCV002289313	likely benign	not provided	2023-10-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001660683	SCV004140520	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MYH14: BS2
PreventionGenetics, part of Exact Sciences	RCV003950129	SCV004765980	likely benign	MYH14-related condition	2023-01-17	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).
Division of Human Genetics, Children's Hospital of Philadelphia	RCV000477780	SCV000536846	uncertain significance	Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	2015-11-13	no assertion criteria provided	research