ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)

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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 RCV002761491 SCV003026786 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1980632). This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 30539151). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val348Cysfs*143) 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).
Baylor Genetics RCV003464594 SCV004205821 pathogenic Autosomal recessive osteopetrosis 1 2022-02-06 criteria provided, single submitter clinical testing

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