ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.12738G>A (p.Gln4246=)

gnomAD frequency: 0.00001  dbSNP: rs1451909286
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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 RCV002727312 SCV003005786 uncertain significance not provided 2022-03-20 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. This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects codon 4246 of the HSPG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HSPG2 protein.

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