Submissions for variant NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)

dbSNP: rs376170600

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneKor MSA	RCV000708600	SCV000821697	likely pathogenic	not provided	2020-01-01	criteria provided, single submitter	clinical testing	This variant is a single amino acid change from Tyrosine to a premature translational stop signal at codon 370 of the ATM protein. This is expected to result in an absent or disrupted protein product. Truncating variants in ATM are known to be pathogenic (PMID: 25614872, 23807571).
Invitae	RCV001868317	SCV002142973	pathogenic	Ataxia-telangiectasia syndrome	2021-05-18	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 31159747, 28580595). ClinVar contains an entry for this variant (Variation ID: 584461). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr370*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Myriad Genetics, Inc.	RCV004026758	SCV004932041	pathogenic	Familial cancer of breast	2024-01-12	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	RCV001653982	SCV001870398	pathogenic	Breast carcinoma	2021-09-12	no assertion criteria provided	clinical testing