ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.7867T>C (p.Ser2623Pro)

gnomAD frequency: 0.00021  dbSNP: rs141647961
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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 RCV001978698 SCV002209976 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2623 of the HSPG2 protein (p.Ser2623Pro). 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1439770). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. This variant is present in population databases (rs141647961, gnomAD 0.09%).

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