ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.808A>G (p.Met270Val)

dbSNP: rs1555146021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672300 SCV000797396 uncertain significance Smith-Lemli-Opitz syndrome 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV000672300 SCV002244278 pathogenic Smith-Lemli-Opitz syndrome 2023-09-12 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: 556307). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 18249054). 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 methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 270 of the DHCR7 protein (p.Met270Val).
Baylor Genetics RCV000672300 SCV004183559 likely pathogenic Smith-Lemli-Opitz syndrome 2023-10-03 criteria provided, single submitter clinical testing

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