ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)

gnomAD frequency: 0.00001  dbSNP: rs61893867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513295 SCV003512387 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-05-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 409 of the EFEMP2 protein (p.Arg409Gln). This variant is present in population databases (rs61893867, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 39010). 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 C35"). 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.
GeneReviews RCV000032267 SCV000055902 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only

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