ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.21257A>G (p.Lys7086Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469508 SCV002765251 uncertain significance not provided 2022-06-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; Reported using an alternate transcript of the gene, which is expressed in neurons and skin

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