ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu)

dbSNP: rs780659504
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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 RCV001352558 SCV001547119 uncertain significance Cutis laxa, autosomal recessive, type 1B 2020-08-02 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 with EFEMP2-related conditions. This variant is present in population databases (rs780659504, ExAC 0.009%). This sequence change replaces proline with leucine at codon 99 of the EFEMP2 protein (p.Pro99Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV004036692 SCV003746878 uncertain significance Cardiovascular phenotype 2021-10-29 criteria provided, single submitter clinical testing The c.296C>T (p.P99L) alteration is located in exon 4 (coding exon 3) of the EFEMP2 gene. This alteration results from a C to T substitution at nucleotide position 296, causing the proline (P) at amino acid position 99 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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