ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.356A>T (p.His119Leu)

dbSNP: rs28938174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000274996 SCV000329332 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing The H119L missense pathogenic variant has been reported previously in association with SLOS (Witsch-Baumgartner et al., 2001).
Invitae RCV000007182 SCV002247477 pathogenic Smith-Lemli-Opitz syndrome 2022-09-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs28938174, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 119 of the DHCR7 protein (p.His119Leu). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 9683613). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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: 6780).
Fulgent Genetics, Fulgent Genetics RCV000007182 SCV002802353 likely pathogenic Smith-Lemli-Opitz syndrome 2022-01-11 criteria provided, single submitter clinical testing
OMIM RCV000007182 SCV000027378 pathogenic Smith-Lemli-Opitz syndrome 1998-08-01 no assertion criteria provided literature only

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