ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5763-2A>T (rs876659489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410861 SCV000486706 likely pathogenic Ataxia-telangiectasia syndrome 2016-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000523412 SCV000617370 likely pathogenic not provided 2017-09-12 criteria provided, single submitter clinical testing This variant is denoted ATM c.5763-2A>T or IVS38-2A>T and consists of an A>T nucleotide substitution at the -2 position of intron 38 of the ATM gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also called IVS40-2A>T using alternate exon numbering, has been reported in the compound heterozygous state in an individual with ataxia telangiectasia (Broeks 1998). Based on the currently available information, we consider ATM c.5763-2A>T to be a likely pathogenic variant.

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