ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)

gnomAD frequency: 0.00001  dbSNP: rs1338631330
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668174 SCV000792732 likely pathogenic Autosomal recessive osteopetrosis 1 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV000798499 SCV000938118 pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln116*) 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 present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552835). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003411576 SCV004106769 likely pathogenic TCIRG1-related disorder 2023-01-23 criteria provided, single submitter clinical testing The TCIRG1 c.346C>T variant is predicted to result in premature protein termination (p.Gln116*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0082% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-67810259-C-T). Nonsense variants in TCIRG1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV000668174 SCV004205803 pathogenic Autosomal recessive osteopetrosis 1 2022-12-28 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000668174 SCV005044035 pathogenic Autosomal recessive osteopetrosis 1 2024-01-29 criteria provided, single submitter clinical testing PVS1 PM2 PM3_Supporting, PP3

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