ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1674-1G>C

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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 RCV003464679 SCV004205795 pathogenic Autosomal recessive osteopetrosis 1 2023-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779127 SCV004639328 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site results in abnormally spliced transcripts and introduces a premature termination codon (PMID: 10888887). The resulting mRNA is expected to undergo nonsense-mediated decay. This sequence change affects an acceptor splice site in intron 14 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 individuals with autosomal recessive osteopetrosis (PMID: 10888887, 15300850; Invitae). For these reasons, this variant has been classified as Pathogenic.

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