ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu)

gnomAD frequency: 0.00001  dbSNP: rs780088227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292578 SCV000373911 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000292578 SCV002231879 pathogenic Smith-Lemli-Opitz syndrome 2023-09-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 305955). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 23790112). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs780088227, gnomAD 0.002%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 361 of the DHCR7 protein (p.Phe361Leu).

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