ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1305+2T>C

dbSNP: rs1554997818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673704 SCV000798939 likely pathogenic Autosomal recessive osteopetrosis 1 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV001379499 SCV001577311 pathogenic not provided 2022-02-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with osteopetrosis (PMID: 25829125; Invitae). ClinVar contains an entry for this variant (Variation ID: 557548). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000673704 SCV002094912 likely pathogenic Autosomal recessive osteopetrosis 1 2021-06-10 no assertion criteria provided clinical testing

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