ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu)

dbSNP: rs543567156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001992115 SCV002282267 uncertain significance Cutis laxa, autosomal recessive, type 1B 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 395 of the EFEMP2 protein (p.Val395Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. 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 C25"). 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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