ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)

dbSNP: rs780311417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002048139 SCV002292812 likely pathogenic not provided 2023-12-22 criteria provided, single submitter clinical testing This variant, c.2161_2163del, results in the deletion of 1 amino acid(s) of the TCIRG1 protein (p.Ile721del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780311417, gnomAD 0.007%). This variant has been observed in individual(s) with severe osterpetrosis or infantile malignant osteopetrosis (PMID: 15300850, 20424301). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.2158_2160delATC Ile720del or c.2160_2162del (p.Ile721del). ClinVar contains an entry for this variant (Variation ID: 1507699). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507790 SCV002812808 likely pathogenic Autosomal recessive osteopetrosis 1 2022-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV002507790 SCV004205806 pathogenic Autosomal recessive osteopetrosis 1 2022-11-27 criteria provided, single submitter clinical testing

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