ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.8504C>A (p.Ser2835Tyr)

gnomAD frequency: 0.00035  dbSNP: rs146505513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001596419 SCV001830752 likely benign not provided 2021-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001596419 SCV002196530 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 2835 of the HSPG2 protein (p.Ser2835Tyr). This variant is present in population databases (rs146505513, gnomAD 0.1%). 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: 1223625). 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. 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.

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