ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5354G>T (p.Arg1785Leu)

dbSNP: rs774015925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000723116 SCV000854247 uncertain significance not provided 2018-09-16 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004540029 SCV004780891 uncertain significance MYH9-related disorder 2024-02-14 no assertion criteria provided clinical testing The MYH9 c.5354G>T variant is predicted to result in the amino acid substitution p.Arg1785Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, a different substitution at the same codon, defined as c.5353C>T (p.Arg1785Cys), was reported in an individual with hereditary hearing loss, but the clinical significance was uncertain (Kim et al. 2016. PubMed ID: 27393652). At this time, the clinical significance of the p.Arg1785Leu variant is uncertain due to the absence of conclusive functional and genetic evidence.

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