ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.941G>A (p.Arg314His)

gnomAD frequency: 0.00002  dbSNP: rs760501413
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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 RCV001068454 SCV001233566 uncertain significance Cutis laxa, autosomal recessive, type 1B 2021-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 314 of the EFEMP2 protein (p.Arg314His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs760501413, ExAC 0.002%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004994240 SCV005572084 uncertain significance Cardiovascular phenotype 2024-09-08 criteria provided, single submitter clinical testing The p.R314H variant (also known as c.941G>A), located in coding exon 8 of the EFEMP2 gene, results from a G to A substitution at nucleotide position 941. The arginine at codon 314 is replaced by histidine, 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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