ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)

dbSNP: rs757697462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059048 SCV001223652 pathogenic Smith-Lemli-Opitz syndrome 2023-12-17 criteria provided, single submitter clinical testing This variant, c.820_825del, results in the deletion of 2 amino acid(s) of the DHCR7 protein (p.Asn274_Val275del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757697462, gnomAD 0.01%). This variant has been observed in individual(s) with Smith-Lemli-Opitz syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 854087). This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Asn274Lys) have been determined to be pathogenic (PMID: 12818773, 15952211, 15979035). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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