ClinVar Miner

Submissions for variant NM_024592.5(SRD5A3):c.176dup (p.Pro60fs)

dbSNP: rs1317517756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003313583 SCV004012569 likely pathogenic not provided 2023-01-05 criteria provided, single submitter clinical testing Reported as c.175_176insA, zygosity unknown, in an individual with retinitis pigmentosa, cerebellar ataxia, cognitive impairment, axonal polyneuropathy with demyelinating features, and actional tremor in the published literature (Vural et al., 2013); Frameshift 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23775883)

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