ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.670G>A (p.Glu224Lys) (rs373121544)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596201 SCV000705746 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000671914 SCV000796948 uncertain significance Smith-Lemli-Opitz syndrome 2018-01-08 criteria provided, single submitter clinical testing
Invitae RCV000671914 SCV001203652 uncertain significance Smith-Lemli-Opitz syndrome 2019-11-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 224 of the DHCR7 protein (p.Glu224Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs373121544, ExAC 0.005%). This variant has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 15776424). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 499993). 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: "Benign"; Align-GVGD: "Class C55"). 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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