ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1306-2dup

dbSNP: rs1554997880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669382 SCV000794130 uncertain significance Autosomal recessive osteopetrosis 1 2017-09-15 criteria provided, single submitter clinical testing
Invitae RCV002531227 SCV002979026 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the TCIRG1 gene. It does not directly change the encoded amino acid sequence of the TCIRG1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553855). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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