Submissions for variant NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)

dbSNP: rs1555091431

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000658623	SCV000780403	likely pathogenic	not provided	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001261520	SCV004375986	pathogenic	Ataxia-telangiectasia syndrome	2024-01-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val1190*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 33084218). ClinVar contains an entry for this variant (Variation ID: 546687). 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.
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	RCV001261520	SCV001424176	uncertain significance	Ataxia-telangiectasia syndrome		flagged submission	clinical testing