ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)

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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 RCV002721147 SCV003001481 pathogenic not provided 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu463*) 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 present in population databases (rs774578979, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1964156). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464589 SCV004205798 likely pathogenic Autosomal recessive osteopetrosis 1 2023-02-02 criteria provided, single submitter clinical testing

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