ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)

gnomAD frequency: 0.00001  dbSNP: rs200042576
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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 RCV001872716 SCV002145000 uncertain significance Dilated cardiomyopathy 1J 2024-06-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 71 of the EYA4 protein (p.Glu71Asp). This variant is present in population databases (rs200042576, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 1372072). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002425150 SCV002731109 likely benign Cardiovascular phenotype 2024-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503445 SCV002779011 uncertain significance Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10 2022-01-04 criteria provided, single submitter clinical testing

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