ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.12871G>A (p.Gly4291Ser)

gnomAD frequency: 0.00001  dbSNP: rs781611518
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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 RCV002606877 SCV003503418 uncertain significance not provided 2022-06-04 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 (rs781611518, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 4291 of the HSPG2 protein (p.Gly4291Ser).

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