ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2468G>A (p.Arg823His)

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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 RCV002706090 SCV002991284 uncertain significance not provided 2024-01-08 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 823 of the HSPG2 protein (p.Arg823His). This variant is present in population databases (rs137871979, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1957164). 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.
Revvity Omics, Revvity RCV002706090 SCV004235535 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002706090 SCV005370627 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)

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