ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter)

gnomAD frequency: 0.00001  dbSNP: rs2097958823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389352 SCV001590678 pathogenic not provided 2022-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075682). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln4308*) in the HSPG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HSPG2 are known to be pathogenic (PMID: 11279527, 16927315, 20542149, 23836246).
Revvity Omics, Revvity RCV001389352 SCV003809310 uncertain significance not provided 2019-03-22 criteria provided, single submitter clinical testing

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