ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) (rs121909764)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007183 SCV000941238 pathogenic Smith-Lemli-Opitz syndrome 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 244 of the DHCR7 protein (p.Gly244Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs121909764, ExAC 0.03%). This variant has been observed in combination with another DHCR7 variant in individuals affected with Smith-Lemli-Opitz syndrome (PMID: 9683613, 12818773, 12270273, 23293579). ClinVar contains an entry for this variant (Variation ID: 6781). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007183 SCV000027379 pathogenic Smith-Lemli-Opitz syndrome 1998-08-01 no assertion criteria provided literature only

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