ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)

gnomAD frequency: 0.00001  dbSNP: rs749361897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665688 SCV000789847 likely pathogenic Autosomal recessive osteopetrosis 1 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV001061622 SCV001226370 pathogenic not provided 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg327*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 22231430). ClinVar contains an entry for this variant (Variation ID: 550832). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000665688 SCV004205776 pathogenic Autosomal recessive osteopetrosis 1 2023-06-08 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000665688 SCV004806828 uncertain significance Autosomal recessive osteopetrosis 1 2024-03-26 criteria provided, single submitter clinical testing

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