ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1405C>T (p.Arg469Cys) (rs148660993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665167 SCV000789237 uncertain significance Smith-Lemli-Opitz syndrome 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000665167 SCV001414729 uncertain significance Smith-Lemli-Opitz syndrome 2019-02-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 469 of the DHCR7 protein (p.Arg469Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148660993, ExAC 0.01%). This variant has been observed in individuals affected with Smith-Lemli-Opitz syndrome, however a second variant was not reported (PMID: 24813812). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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