ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs)

dbSNP: rs747511049
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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 RCV001956472 SCV002247329 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe459Leufs*79) 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 present in population databases (rs747511049, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with clinical features of osteopetrosis (PMID: 29723947). ClinVar contains an entry for this variant (Variation ID: 1458624). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471191 SCV004205760 pathogenic Autosomal recessive osteopetrosis 1 2023-07-15 criteria provided, single submitter clinical testing

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