ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)

dbSNP: rs748659068
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668642 SCV000793276 pathogenic Autosomal recessive osteopetrosis 1 2017-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668642 SCV000893229 pathogenic Autosomal recessive osteopetrosis 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387137 SCV001587684 pathogenic not provided 2023-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553240). This premature translational stop signal has been observed in individuals with autosomal recessive osteopetrosis (PMID: 12507890). This variant is present in population databases (rs748659068, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln746*) 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 RCV000668642 SCV004205730 pathogenic Autosomal recessive osteopetrosis 1 2023-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000668642 SCV002092934 pathogenic Autosomal recessive osteopetrosis 1 2020-06-26 no assertion criteria provided clinical testing

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