Submissions for variant NM_000051.4(ATM):c.3336T>A (p.Pro1112=)

gnomAD frequency: 0.00001  dbSNP: rs758784434

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000197409	SCV000252958	likely benign	Ataxia-telangiectasia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000223244	SCV000273815	likely benign	Hereditary cancer-predisposing syndrome	2015-02-09	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	RCV000439128	SCV000512156	benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000223244	SCV000682120	likely benign	Hereditary cancer-predisposing syndrome	2016-12-18	criteria provided, single submitter	clinical testing
Counsyl	RCV000197409	SCV000797257	likely benign	Ataxia-telangiectasia syndrome	2018-01-18	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000223244	SCV004014974	likely benign	Hereditary cancer-predisposing syndrome	2023-04-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589851	SCV005083899	benign	Familial cancer of breast	2024-05-14	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000439128	SCV005205514	likely benign	not specified	2024-06-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553072	SCV004719317	likely benign	ATM-related disorder	2019-04-25	no assertion criteria provided	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).