ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.712G>A (p.Asp238Asn)

gnomAD frequency: 0.00001  dbSNP: rs1279069233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796196 SCV000935700 uncertain significance Oligodontia-cancer predisposition syndrome 2024-06-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 238 of the AXIN2 protein (p.Asp238Asn). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 642686). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AXIN2 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV001026071 SCV001188382 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-08 criteria provided, single submitter clinical testing The c.712G>A (p.D238N) alteration is located in exon 2 (coding exon 1) of the AXIN2 gene. This alteration results from a G to A substitution at nucleotide position 712, causing the aspartic acid (D) at amino acid position 238 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003472346 SCV004213090 uncertain significance Colorectal cancer 2023-07-21 criteria provided, single submitter clinical testing

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