ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.630+2T>C

dbSNP: rs1392364437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666484 SCV000790788 pathogenic Autosomal recessive osteopetrosis 1 2017-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001220161 SCV001392137 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing 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 been observed in individuals affected with osteopetrosis (PMID: 11532986, 18715141). This variant is also known as T4525C in the literature. ClinVar contains an entry for this variant (Variation ID: 551426). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the TCIRG1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000666484 SCV004205727 pathogenic Autosomal recessive osteopetrosis 1 2023-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666484 SCV002094902 pathogenic Autosomal recessive osteopetrosis 1 2020-01-20 no assertion criteria provided clinical testing

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