ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)

dbSNP: rs1554995341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672608 SCV000797726 likely pathogenic Autosomal recessive osteopetrosis 1 2018-02-08 criteria provided, single submitter clinical testing
3billion RCV000672608 SCV002521290 pathogenic Autosomal recessive osteopetrosis 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with TCIRG1- related disorder (ClinVar ID: VCV000556585 / PMID: 22231430 / 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Invitae RCV002532130 SCV003440333 pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro161Alafs*66) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product. 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). This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 22231430). This variant is also known as c.480_481insG. ClinVar contains an entry for this variant (Variation ID: 556585). 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.

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