ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6991del (p.Ala2331fs)

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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 RCV005192971 SCV005822277 pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2331Profs*3) 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). This variant is not present in population databases (gnomAD no frequency). 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.

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