ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)

dbSNP: rs201270451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079645 SCV000111528 uncertain significance not provided 2013-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000411557 SCV000487064 likely pathogenic Smith-Lemli-Opitz syndrome 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV000411557 SCV002237904 pathogenic Smith-Lemli-Opitz syndrome 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 462 of the DHCR7 protein (p.Tyr462His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 10814720, 27513191). ClinVar contains an entry for this variant (Variation ID: 93711). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DHCR7 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000079645 SCV004023571 likely pathogenic not provided 2023-02-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25405082, 22391996, 24500076, 28349652, 24813812, 27401223, 11001806, 16983147, 10814720, 11241839, 15670717, 11111101, 12914579, 23042628, 16207203)

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