ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn)

gnomAD frequency: 0.00004  dbSNP: rs370759216
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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 RCV000558794 SCV000652059 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-01-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 116 of the EFEMP2 protein (p.Asp116Asn). This variant is present in population databases (rs370759216, gnomAD 0.007%). 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: 472821). 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 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525973 SCV005040469 uncertain significance not specified 2024-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992354 SCV005572080 uncertain significance Cardiovascular phenotype 2024-08-28 criteria provided, single submitter clinical testing The p.D116N variant (also known as c.346G>A), located in coding exon 3 of the EFEMP2 gene, results from a G to A substitution at nucleotide position 346. The aspartic acid at codon 116 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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