ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)

dbSNP: rs1855655612
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001289553 SCV001477506 likely pathogenic Autosomal recessive osteopetrosis 1 2020-12-17 criteria provided, single submitter clinical testing
Molecular Lab, Department of Haematology, Christian Medical College RCV001289553 SCV002516050 pathogenic Autosomal recessive osteopetrosis 1 2022-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001289553 SCV002779473 pathogenic Autosomal recessive osteopetrosis 1 2021-11-24 criteria provided, single submitter clinical testing
Invitae RCV002538381 SCV003440553 pathogenic not provided 2023-03-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 995579). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 20424301). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln562*) 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).
Baylor Genetics RCV001289553 SCV004205750 pathogenic Autosomal recessive osteopetrosis 1 2023-08-10 criteria provided, single submitter clinical testing

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