Submissions for variant NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)

dbSNP: rs1555075781

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000627907	SCV000748791	pathogenic	Ataxia-telangiectasia syndrome	2022-06-06	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 524264). 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). This sequence change creates a premature translational stop signal (p.Gln781*) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV000627907	SCV002104237	pathogenic	Ataxia-telangiectasia syndrome	2022-03-10	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV002467450	SCV002762773	pathogenic	Familial cancer of breast	2022-12-09	criteria provided, single submitter	research	PVS1, PM2_SUP, PM3_SUP