ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)

dbSNP: rs1554995009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667217 SCV000791635 likely pathogenic Autosomal recessive osteopetrosis 1 2017-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855477 SCV002163083 pathogenic not provided 2021-04-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TCIRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552024). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gln69*) 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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