ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)

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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 RCV003464672 SCV004205761 pathogenic Autosomal recessive osteopetrosis 1 2023-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779125 SCV004642684 pathogenic not provided 2023-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of osteopetrosis (PMID: 24108692). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp216*) 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).

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