ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.503+1G>A

dbSNP: rs1554995381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674837 SCV000800238 likely pathogenic Autosomal recessive osteopetrosis 1 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861849 SCV002277188 likely pathogenic not provided 2021-03-13 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, 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 conditions. ClinVar contains an entry for this variant (Variation ID: 558548). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 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).

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