ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.922del (p.Gln308fs)

dbSNP: rs1554996130
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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 RCV003555928 SCV004294899 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln308Serfs*4) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 10888887). This variant is also known as delC5272. ClinVar contains an entry for this variant (Variation ID: 5459). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005792 SCV000025974 pathogenic Autosomal recessive osteopetrosis 1 2000-07-01 no assertion criteria provided literature only

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