ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs)

dbSNP: rs1571880941
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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 RCV000820287 SCV000960994 pathogenic Immunodeficiency 104 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PTPRC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg788Tyrfs*10) in the PTPRC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTPRC are known to be pathogenic (PMID: 10700239).

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