ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1838A>G (p.Gln613Arg)

dbSNP: rs1591338772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000787915 SCV003803293 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing Reported with a second variant (phase unknown) in a patient with inherited retinal disease in published literature (Jespersgaard et al., 2019); clinical information not provided; 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: 30718709)
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787915 SCV000926934 uncertain significance not provided 2018-04-01 no assertion criteria provided research

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