ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002895796 SCV003249387 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-09-06 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 34 of the EFEMP2 protein (p.Asp34Asn). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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 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.
Ambry Genetics RCV004066105 SCV005027161 uncertain significance Cardiovascular phenotype 2023-11-09 criteria provided, single submitter clinical testing The p.D34N variant (also known as c.100G>A), located in coding exon 1 of the EFEMP2 gene, results from a G to A substitution at nucleotide position 100. The aspartic acid at codon 34 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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