ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1783_1802+91del (rs1555072063)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776713 SCV000912343 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV000468593 SCV000546938 likely pathogenic Ataxia-telangiectasia syndrome 2017-02-06 criteria provided, single submitter clinical testing This sequence change is a deletion of the genomic region including a portion of exon 11 of the ATM gene. This deletion removes the last 20 nucleotides of exon 11 and the first 91 nucleotides of intron 11, including the splice donor site. This deletion may disrupt mRNA splicing, and it is expected to create a truncated ATM protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Likely Pathogenic.

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