ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1887+1G>A

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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 RCV003466434 SCV004205751 likely pathogenic Autosomal recessive osteopetrosis 1 2023-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003720929 SCV004509280 likely pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the TCIRG1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with osteopetrosis (PMID: 30431110). This variant is also known as IVS15+1G>A. Studies have shown that disruption of this splice site results in skipping of exon 15 and introduces a premature termination codon (PMID: 30431110). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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