ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)

gnomAD frequency: 0.00001  dbSNP: rs777248132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674586 SCV000799948 uncertain significance Smith-Lemli-Opitz syndrome 2018-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674586 SCV001392716 pathogenic Smith-Lemli-Opitz syndrome 2023-07-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs777248132, gnomAD 0.06%). 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: 558335). This missense change has been observed in individual(s) with DHR7-related conditions (PMID: 10814720, 12818773). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 243 of the DHCR7 protein (p.Pro243Arg).

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