ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys)

gnomAD frequency: 0.00004  dbSNP: rs781700061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001345982 SCV001540139 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 308 of the EFEMP2 protein (p.Arg308Cys). This variant is present in population databases (rs781700061, gnomAD 0.004%). 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: 1042083). 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. 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.
GeneDx RCV001586138 SCV001820367 uncertain significance not provided 2021-02-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004619655 SCV005116509 uncertain significance Cardiovascular phenotype 2024-06-20 criteria provided, single submitter clinical testing The c.922C>T (p.R308C) alteration is located in exon 9 (coding exon 8) of the EFEMP2 gene. This alteration results from a C to T substitution at nucleotide position 922, causing the arginine (R) at amino acid position 308 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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