ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.4571C>T (p.Ala1524Val)

gnomAD frequency: 0.00018  dbSNP: rs144546505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757381 SCV000885582 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000757381 SCV001875111 uncertain significance not provided 2021-07-26 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 has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000757381 SCV002129722 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1524 of the HSPG2 protein (p.Ala1524Val). This variant is present in population databases (rs144546505, gnomAD 0.05%). 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: 618683). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000757381 SCV003809280 uncertain significance not provided 2020-04-02 criteria provided, single submitter clinical testing

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