Submissions for variant NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)

gnomAD frequency: 0.00001  dbSNP: rs777925486

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166968	SCV000217789	likely benign	Hereditary cancer-predisposing syndrome	2014-12-01	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.
GeneDx	RCV001711449	SCV000526560	likely benign	not provided	2020-08-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463235	SCV000558452	likely benign	Ataxia-telangiectasia syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166968	SCV000903398	likely benign	Hereditary cancer-predisposing syndrome	2018-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000463235	SCV001261061	uncertain significance	Ataxia-telangiectasia syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000430989	SCV001448353	likely benign	not specified	2020-11-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000430989	SCV002065643	likely benign	not specified	2018-09-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000430989	SCV004242546	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552928	SCV004717712	likely benign	ATM-related disorder	2023-04-19	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).
Myriad Genetics, Inc.	RCV004589813	SCV005083938	benign	Familial cancer of breast	2024-06-14	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.