ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.728C>G (p.Pro243Arg) (rs777248132)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674586 SCV000799948 uncertain significance Smith-Lemli-Opitz syndrome 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000674586 SCV001392716 pathogenic Smith-Lemli-Opitz syndrome 2019-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 243 of the DHCR7 protein (p.Pro243Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs777248132, ExAC 0.06%). This variant has been observed in combination with another DHCR7 variant in individuals affected with Smith-Lemli-Opitz syndrome (PMID: 10814720, 12818773). ClinVar contains an entry for this variant (Variation ID: 558335). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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