Submissions for variant NM_000051.4(ATM):c.4890C>T (p.Asp1630=)

dbSNP: rs1591685165

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000934122	SCV001079839	likely benign	Ataxia-telangiectasia syndrome	2024-12-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189849	SCV001357215	likely benign	Hereditary cancer-predisposing syndrome	2019-11-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001189849	SCV002635752	uncertain significance	Hereditary cancer-predisposing syndrome	2024-02-05	criteria provided, single submitter	clinical testing	The c.4890C>T variant (also known as p.D1630D), located in coding exon 31 of the ATM gene. This variant results from a C to T substitution at nucleotide position 4890. This nucleotide substitution does not change the aspartic acid at codon 1630. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Based on the available evidence, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc.	RCV004588353	SCV005085039	benign	Familial cancer of breast	2024-05-21	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.