ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.349C>T (p.Leu117Phe)

gnomAD frequency: 0.00001  dbSNP: rs1044216762
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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 RCV000813043 SCV000953379 uncertain significance Dilated cardiomyopathy 1J 2024-11-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 117 of the EYA4 protein (p.Leu117Phe). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EYA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 656589). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV002453842 SCV002617268 uncertain significance Cardiovascular phenotype 2024-11-30 criteria provided, single submitter clinical testing The p.L117F variant (also known as c.349C>T), located in coding exon 5 of the EYA4 gene, results from a C to T substitution at nucleotide position 349. The leucine at codon 117 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004773185 SCV005385705 uncertain significance not provided 2024-01-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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