ClinVar Miner

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

dbSNP: rs1554999205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674525 SCV000799875 likely pathogenic Autosomal recessive osteopetrosis 1 2018-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000819342 SCV000959996 likely pathogenic not provided 2018-11-11 criteria provided, single submitter clinical testing 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TCIRG1-related disease. ClinVar contains an entry for this variant (Variation ID: 558282). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 15 of the TCIRG1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV000674525 SCV004205762 likely pathogenic Autosomal recessive osteopetrosis 1 2023-07-11 criteria provided, single submitter clinical testing

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