ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)

dbSNP: rs113993956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000023718 SCV000292358 pathogenic Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2015-08-18 criteria provided, single submitter research This variant has been previously reported as disease-causing and was identified in a 12 yo male with axonal neuropathy and neurosensory hearing loss.
GeneDx RCV003228899 SCV003926374 pathogenic not provided 2022-11-18 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect due to impairments in mitochondrial fission (Almutawa et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21480433, 31231018, 27875632, 26257172, 28708278)
OMIM RCV000023718 SCV000045009 pathogenic Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2011-06-01 no assertion criteria provided literature only

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