Submissions for variant NM_000051.4(ATM):c.5157T>C (p.Asn1719=)

gnomAD frequency: 0.00001  dbSNP: rs786203254

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166482	SCV000217281	likely benign	Hereditary cancer-predisposing syndrome	2014-10-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227287	SCV000282981	likely benign	Ataxia-telangiectasia syndrome	2025-01-08	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166482	SCV000682253	likely benign	Hereditary cancer-predisposing syndrome	2016-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001721081	SCV000716015	likely benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166482	SCV002527878	likely benign	Hereditary cancer-predisposing syndrome	2020-09-03	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004589795	SCV005083474	benign	Familial cancer of breast	2024-05-22	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.