ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.10576G>A (p.Gly3526Arg)

gnomAD frequency: 0.00003  dbSNP: rs769171266
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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 RCV002042955 SCV002300847 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3526 of the HSPG2 protein (p.Gly3526Arg). This variant is present in population databases (rs769171266, gnomAD 0.02%). 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: 1510018). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions.

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