ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)

gnomAD frequency: 0.00003  dbSNP: rs1032242817
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000761593 SCV000891753 pathogenic Smith-Lemli-Opitz syndrome 2018-06-22 criteria provided, single submitter research ACMG codes: PVS1, PM2, PM3
Baylor Genetics RCV000761593 SCV001163332 likely pathogenic Smith-Lemli-Opitz syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000761593 SCV001381435 pathogenic Smith-Lemli-Opitz syndrome 2024-02-02 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 (no rsID available, gnomAD 0.002%). 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: 623647). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000761593 SCV002810553 likely pathogenic Smith-Lemli-Opitz syndrome 2021-11-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000761593 SCV003827559 pathogenic Smith-Lemli-Opitz syndrome 2022-09-12 criteria provided, single submitter clinical testing
GeneDx RCV003166024 SCV003915043 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing Observed with a pathogenic variant on the opposite allele (in trans) in a patient in the published literature, but specific clinical information was not provided (Bowling et al., 2022); Nonsense 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: 28166604, 34308104, 34930662)

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