ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1389_1390insCCTCGC (p.Pro462_Arg463dup)

dbSNP: rs1064793787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480129 SCV000567033 uncertain significance not provided 2015-06-23 criteria provided, single submitter clinical testing This individual is heterozygous for an insertion of 6 nucleotides of AXIN2. The reference sequence, with the bases that are inserted in braces, is CCGC[CCTCGC]TCCC. In addition, this patient is apparently homozygous for a C>T polymorphism at nucleotide c.1386 of the reference sequence. Therefore, the variant in this individual is denoted c.1389_1390insCCTCGC at the cDNA level and p.Pro462_R463dup (P462_R463dup) at the protein level. This in frame insertion occurs in a region which is conserved and is located within the region of interaction with beta-catenin (Uniprot). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame insertions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider AXIN2 Pro462_R463dup to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851160 SCV002218396 uncertain significance Oligodontia-cancer predisposition syndrome 2024-11-26 criteria provided, single submitter clinical testing This variant, c.1389_1390insCCTCGC, results in the insertion of 2 amino acid(s) of the AXIN2 protein (p.Pro462_Arg463dup), but otherwise preserves the integrity of the reading frame. 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. ClinVar contains an entry for this variant (Variation ID: 419314). 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 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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