ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val)

dbSNP: rs1555145614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666844 SCV000791202 uncertain significance Smith-Lemli-Opitz syndrome 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666844 SCV004294115 pathogenic Smith-Lemli-Opitz syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 366 of the DHCR7 protein (p.Gly366Val). 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: 19365639). ClinVar contains an entry for this variant (Variation ID: 551712). 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. For these reasons, this variant has been classified as Pathogenic.

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