ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464676 SCV004205788 pathogenic Autosomal recessive osteopetrosis 1 2023-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553970 SCV004294906 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu792Aspfs*28) in the TCIRG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the TCIRG1 protein. This premature translational stop signal has been observed in individual(s) with infantile malignant osteopetrosis (PMID: 10888887). For these reasons, this variant has been classified as Pathogenic. 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; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is also known as del 11647-11650.

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