ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2415-2A>G

dbSNP: rs1555000376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670013 SCV000794821 likely pathogenic Autosomal recessive osteopetrosis 1 2017-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001797122 SCV002038726 likely pathogenic not provided 2021-12-17 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001797122 SCV002266078 uncertain significance not provided 2022-01-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 19 of the TCIRG1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a 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: 24108692). ClinVar contains an entry for this variant (Variation ID: 554390). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000670013 SCV004205782 likely pathogenic Autosomal recessive osteopetrosis 1 2024-02-05 criteria provided, single submitter clinical testing

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