Submissions for variant NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)

gnomAD frequency: 0.00329  dbSNP: rs117234138

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228456	SCV000285846	benign	Dyskeratosis congenita	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364876	SCV000386410	benign	Dyskeratosis congenita, autosomal dominant 3	2018-01-13	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.
Illumina Laboratory Services, Illumina	RCV000272534	SCV000386411	benign	Revesz syndrome	2018-01-13	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	RCV001567869	SCV001791637	likely benign	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487054	SCV002798763	likely benign	Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3	2022-05-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001567869	SCV004129134	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TINF2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001567869	SCV005218984	likely benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV000228456	SCV005516536	likely benign	Dyskeratosis congenita	2024-10-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV005230143	SCV005872818	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001567869	SCV005875651	benign	not provided	2024-06-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977649	SCV004798464	benign	TINF2-related disorder	2019-04-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).