ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2125del (p.Ile709fs)

dbSNP: rs1057517248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412308 SCV000486979 likely pathogenic Ataxia-telangiectasia syndrome 2016-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000412308 SCV001374576 pathogenic Ataxia-telangiectasia syndrome 2019-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 371408). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile709Leufs*26) in the ATM gene. It is expected to result in an absent or disrupted protein product.

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