ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3664_3666delinsAT (p.Leu1222fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003501712 SCV004296150 pathogenic Ataxia-telangiectasia syndrome 2023-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1222Ilefs*18) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with autosomal recessive ataxia-telangiectasia (PMID: 21665257). For these reasons, this variant has been classified as Pathogenic.

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