ClinVar Miner

Submissions for variant NM_144631.6(ZNF513):c.1013G>A (p.Arg338His)

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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 RCV005059576 SCV005698438 uncertain significance not provided 2024-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 338 of the ZNF513 protein (p.Arg338His). This variant is present in population databases (rs772195452, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ZNF513-related conditions. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816098 SCV005073136 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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