ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.196+1G>T

dbSNP: rs2134432498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379497 SCV001577309 likely pathogenic not provided 2022-11-12 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1068056). Disruption of this splice site has been observed in individual(s) with osteopetrosis (PMID: 25018813). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the TCIRG1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).
Molecular Lab, Department of Haematology, Christian Medical College RCV002246359 SCV002516024 pathogenic Autosomal recessive osteopetrosis 1 2022-05-20 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV002246359 SCV004175843 likely pathogenic Autosomal recessive osteopetrosis 1 2023-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV002246359 SCV004205780 pathogenic Autosomal recessive osteopetrosis 1 2023-05-19 criteria provided, single submitter clinical testing

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