ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)

gnomAD frequency: 0.00004  dbSNP: rs536394774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387625 SCV001588297 pathogenic Smith-Lemli-Opitz syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp182*) in the DHCR7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DHCR7 are known to be pathogenic (PMID: 9634533, 10677299). This variant is present in population databases (rs536394774, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1074358). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001387625 SCV005629876 likely pathogenic Smith-Lemli-Opitz syndrome 2024-03-05 criteria provided, single submitter clinical testing

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