ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)

gnomAD frequency: 0.00012  dbSNP: rs556541366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155782 SCV000205493 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing p.Tyr434Cys in exon 12 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (36/8364) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs556541366).
Invitae RCV000914855 SCV001060042 likely benign not provided 2021-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000914855 SCV001791436 likely benign not provided 2019-04-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002498757 SCV002807419 likely benign Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-08-10 criteria provided, single submitter clinical testing

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