ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) (rs1032242817)

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Total submissions: 3
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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
Invitae RCV000761593 SCV001381435 pathogenic Smith-Lemli-Opitz syndrome 2019-10-28 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 623647). Loss-of-function variants in DHCR7 are known to be pathogenic (PMID: 9634533, 10677299). For these reasons, this variant has been classified as Pathogenic.

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