ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) (rs727503326)

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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, Partners HealthCare Personalized Medicine RCV000151469 SCV000199516 pathogenic Rare genetic deafness 2014-01-27 criteria provided, single submitter clinical testing The Arg276X variant in MYO6 has not been previously reported in individuals with hearing loss or in large population studies. This variant introduces a prematur e stop codon at position 276 leading to either a truncated or absent protein. I n summary, this variant meets our criteria for pathogenicity (http://pcpgm.partn ers.org/LMM).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000599449 SCV000708497 pathogenic not provided 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000599449 SCV000709820 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Identified in patients with hearing loss referred for genetic testing at GeneDx and in published literature (Sloan-Heggen et al., 2016); This variant is associated with the following publications: (PMID: 29044474, 26969326, 31589614)
Fulgent Genetics,Fulgent Genetics RCV000763565 SCV000894396 pathogenic Autosomal dominant nonsyndromic deafness 22; Deafness, autosomal recessive 37 2018-10-31 criteria provided, single submitter clinical testing

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