ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter)

dbSNP: rs560826820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332605 SCV001524980 pathogenic Congenital bile acid synthesis defect 1 2019-11-19 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV003660891 SCV004372576 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu167*) in the HSD3B7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HSD3B7 are known to be pathogenic (PMID: 12679481). This variant is present in population databases (rs560826820, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HSD3B7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030914). For these reasons, this variant has been classified as Pathogenic.

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