ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464682 SCV004205814 likely pathogenic Autosomal recessive osteopetrosis 1 2022-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003679226 SCV004400302 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln249*) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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