Submissions for variant NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002663391	SCV002985409	pathogenic	Ataxia-telangiectasia syndrome	2022-06-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser305*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics	RCV003465812	SCV004212242	likely pathogenic	Familial cancer of breast	2022-07-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003465812	SCV004933887	pathogenic	Familial cancer of breast	2024-01-11	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.