ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.233C>G (p.Thr78Arg)

gnomAD frequency: 0.00002  dbSNP: rs201644472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171943 SCV000050941 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001297172 SCV001486158 uncertain significance Dilated cardiomyopathy 1J 2023-05-22 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. 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. ClinVar contains an entry for this variant (Variation ID: 191659). This variant has not been reported in the literature in individuals affected with EYA4-related conditions. This variant is present in population databases (rs201644472, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 78 of the EYA4 protein (p.Thr78Arg).
Fulgent Genetics, Fulgent Genetics RCV002492715 SCV002776430 uncertain significance Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10 2021-11-05 criteria provided, single submitter clinical testing

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