Submissions for variant NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003238159	SCV004537075	pathogenic	Ataxia-telangiectasia syndrome	2023-04-22	criteria provided, single submitter	clinical testing	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 premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 28916186, 32888943). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1622*) 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.	RCV004285666	SCV004932673	pathogenic	Familial cancer of breast	2024-01-24	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.
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences	RCV003238159	SCV003936061	pathogenic	Ataxia-telangiectasia syndrome		no assertion criteria provided	curation