Submissions for variant NM_004655.4(AXIN2):c.1267C>T (p.Leu423Phe)

gnomAD frequency: 0.00006  dbSNP: rs376630432

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231018	SCV000288649	likely benign	Oligodontia-cancer predisposition syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000231018	SCV000405705	benign	Oligodontia-cancer predisposition syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000841335	SCV000983296	likely benign	not provided	2021-02-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257565	SCV002537593	benign	Hereditary cancer-predisposing syndrome	2020-09-22	criteria provided, single submitter	curation
Ambry Genetics	RCV002257565	SCV002685803	likely benign	Hereditary cancer-predisposing syndrome	2020-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002465591	SCV002761006	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977665	SCV004793113	likely benign	AXIN2-related condition	2020-03-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).