ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)

dbSNP: rs1565164499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389725 SCV001591178 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu740Glufs*90) in the TCIRG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 91 amino acid(s) of the TCIRG1 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with osteopetrosis (PMID: 30539151). ClinVar contains an entry for this variant (Variation ID: 1075994). This variant disrupts a region of the TCIRG1 protein in which other variant(s) (p.Ala796Leufs*34) have been determined to be pathogenic (PMID: 30537558). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001826184 SCV004205737 pathogenic Autosomal recessive osteopetrosis 1 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826184 SCV002092933 pathogenic Autosomal recessive osteopetrosis 1 2021-03-16 no assertion criteria provided clinical testing

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