ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.548-2A>C (rs61750397)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686310 SCV000813823 likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-05-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the SRD5A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs61750397, ExAC 0.01%). This variant has been reported in individuals affected with disorders of sex development (PMID: 21147889, 28938747). ClinVar contains an entry for this variant (Variation ID: 97408). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SRD5A2 are known to be pathogenic (PMID: 1406794, 1944596). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
University of Sydney Medical Foundation RCV000083658 SCV000115744 not provided not provided no assertion provided not provided

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