ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys)

dbSNP: rs139787408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972754 SCV002245657 pathogenic Smith-Lemli-Opitz syndrome 2023-07-09 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: 1457937). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 12818773, 15952211, 15979035). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 274 of the DHCR7 protein (p.Asn274Lys).
Fulgent Genetics, Fulgent Genetics RCV001972754 SCV005629852 likely pathogenic Smith-Lemli-Opitz syndrome 2024-04-20 criteria provided, single submitter clinical testing

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