ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.928G>A (p.Val310Met)

gnomAD frequency: 0.00001  dbSNP: rs544423133
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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 RCV001345592 SCV001539723 uncertain significance Cutis laxa, autosomal recessive, type 1B 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 310 of the EFEMP2 protein (p.Val310Met). This variant is present in population databases (rs544423133, gnomAD 0.03%). 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: 1041739). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EFEMP2 protein function with a negative predictive value of 80%. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001345592 SCV003919910 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.02% [6/30608]; https://gnomad.broadinstitute.org/variant/11-65635812-C-T?dataset=gnomad_r2_1), and in ClinVar (Variation ID:1041739). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV004995696 SCV005572094 uncertain significance Cardiovascular phenotype 2024-09-22 criteria provided, single submitter clinical testing The p.V310M variant (also known as c.928G>A), located in coding exon 8 of the EFEMP2 gene, results from a G to A substitution at nucleotide position 928. The valine at codon 310 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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