ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)

dbSNP: rs1409887214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061648 SCV001226397 uncertain significance Smith-Lemli-Opitz syndrome 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 344 of the DHCR7 protein (p.Gly344Asp). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with holoprosencephaly (PMID: 15013448). ClinVar contains an entry for this variant (Variation ID: 856234). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DHCR7 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects DHCR7 function (PMID: 15013448). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001061648 SCV002787398 uncertain significance Smith-Lemli-Opitz syndrome 2022-02-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001061648 SCV001460489 uncertain significance Smith-Lemli-Opitz syndrome 2020-09-16 no assertion criteria provided clinical testing

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