ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)

dbSNP: rs1555145619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668758 SCV000793408 uncertain significance Smith-Lemli-Opitz syndrome 2017-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668758 SCV004294116 pathogenic Smith-Lemli-Opitz syndrome 2023-06-19 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Smith–Lemli–Opitz syndrome (PMID: 15521979). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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: 553336). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 360 of the DHCR7 protein (p.Leu360Pro).

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