Submissions for variant NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)

gnomAD frequency: 0.00303  dbSNP: rs119103280

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037022	SCV000060678	benign	not specified	2017-07-05	criteria provided, single submitter	clinical testing	p.Gly384Cys in exon 11 of MYH14: This variant is not expected to have clinical s ignificance, because it has been identified in 1.3% (136/10142) of Ashkenazi Jew ish chromosomes including 1 homozygote by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org/; dbSNP rs119103280). Although this variant has been reported as a de novo variant in one individual with moderate sensorine ural hearing loss (Donaudy 2004), the evidence is not sufficient to establish ca usality.
Eurofins Ntd Llc (ga)	RCV000037022	SCV000331450	likely benign	not specified	2016-09-13	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000438830	SCV000511768	likely benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000438830	SCV000729165	likely benign	not provided	2020-02-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27391121, 25262649, 30622556, 15015131, 27884173, 25098841, 30245029, 31898538)
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000037022	SCV000930197	likely benign	not specified	2019-04-27	criteria provided, single submitter	clinical testing
Invitae	RCV000438830	SCV001102482	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000438830	SCV001144619	likely benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000438830	SCV001157316	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000002283	SCV001296271	uncertain significance	Autosomal dominant nonsyndromic hearing loss 4A	2017-04-27	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000438830	SCV003918161	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH14: BS2
Molecular Genetics, Royal Melbourne Hospital	RCV003993731	SCV004812390	likely benign	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 0.3994% (rs119103280, 511/127.956 alleles, 1 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1
OMIM	RCV000002283	SCV000022441	pathogenic	Autosomal dominant nonsyndromic hearing loss 4A	2004-04-01	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000438830	SCV001920105	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000438830	SCV001970131	likely benign	not provided		no assertion criteria provided	clinical testing