ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1907+6C>T

dbSNP: rs1555577337
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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 RCV000543861 SCV000639127 uncertain significance Oligodontia-cancer predisposition syndrome 2022-12-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 464580). This sequence change falls in intron 7 of the AXIN2 gene. It does not directly change the encoded amino acid sequence of the AXIN2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Myriad Genetics, Inc. RCV000543861 SCV004933801 likely benign Oligodontia-cancer predisposition syndrome 2023-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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