ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)

dbSNP: rs903939170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383096 SCV001582117 pathogenic not provided 2021-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). This variant has not been reported in the literature in individuals with TCIRG1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gln126*) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV003130516 SCV003813572 likely pathogenic Autosomal recessive osteopetrosis 1 2022-05-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003130516 SCV004205771 likely pathogenic Autosomal recessive osteopetrosis 1 2023-06-23 criteria provided, single submitter clinical testing

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