ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs)

dbSNP: rs1346704603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996743 SCV002220876 pathogenic not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala796Leufs*34) in the TCIRG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acid(s) of the TCIRG1 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with TCIRG1-related conditions (PMID: 30537558; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as c.2380_2381delCT (p.Ala796fs*34). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471103 SCV004205796 pathogenic Autosomal recessive osteopetrosis 1 2023-02-23 criteria provided, single submitter clinical testing

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