ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)

dbSNP: rs1173707321
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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 RCV000525900 SCV000630078 pathogenic Smith-Lemli-Opitz syndrome 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 324 of the DHCR7 protein (p.Tyr324His). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (SLOS) (PMID: 10677299). ClinVar contains an entry for this variant (Variation ID: 458678). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280755 SCV001468073 likely pathogenic not provided 2020-08-25 criteria provided, single submitter clinical testing
Counsyl RCV000525900 SCV000793925 uncertain significance Smith-Lemli-Opitz syndrome 2017-09-12 flagged submission clinical testing

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