Submissions for variant NM_000051.4(ATM):c.4426_4436+14del

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002885263	SCV003240176	likely pathogenic	Ataxia-telangiectasia syndrome	2022-10-02	criteria provided, single submitter	clinical testing	Studies have shown that this variant results in skipping of exon 29 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 variant results in the deletion of part of exon 29 (c.4426_4436+14del) of the ATM gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Myriad Genetics, Inc.	RCV004065021	SCV004930349	likely pathogenic	Familial cancer of breast	2024-01-24	criteria provided, single submitter	clinical testing	This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.