ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.682A>G (p.Met228Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003816391 SCV004614216 uncertain significance not provided 2023-08-09 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 tolerated. This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. This variant is present in population databases (rs529397302, gnomAD 0.05%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 228 of the HSPG2 protein (p.Met228Val).

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