ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)

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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 RCV002625045 SCV003519719 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-05-25 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. This variant is present in population databases (rs751149606, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 106 of the EFEMP2 protein (p.Pro106Thr).
Ambry Genetics RCV004992545 SCV005572091 uncertain significance Cardiovascular phenotype 2024-08-28 criteria provided, single submitter clinical testing The p.P106T variant (also known as c.316C>A), located in coding exon 3 of the EFEMP2 gene, results from a C to A substitution at nucleotide position 316. The proline at codon 106 is replaced by threonine, 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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