ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1607+1G>T (rs772926890)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563715 SCV000667940 pathogenic Hereditary cancer-predisposing syndrome 2016-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation ,Detected in individual(s) satisfying established diagnostic criteria for classic disease in trans with a mutation or mutation is homozygous
Counsyl RCV000203930 SCV000485314 likely pathogenic Ataxia-telangiectasia syndrome 2015-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000235749 SCV000293070 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.1607+1G>T or IVS10+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 10 of the ATM gene. The variant destroys a canonical splice donor 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, previously reported as IVS12+1G>T using alternate exon numbering, has been reported in both the homozygous state and compound heterozygous state in multiple individuals with Ataxia-telangiectasia (Gilad 1998, Telatar 1998, Magliozzi 2006, Chessa 2009). Based on current evidence, we consider ATM c.1607+1G>T to be pathogenic.
Invitae RCV000203930 SCV000261188 pathogenic Ataxia-telangiectasia syndrome 2015-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10. Experimental studies have shown that this nucleotide change disrupts mRNA splicing and leads to a loss of ATM protein (PMID: 9450906, 9443866, 23454770). Truncating variants in ATM are known to be pathogenic. This particular truncation has been reported in multiple patients with with ataxia telangiectasia, including one homozygous individual (PMID: 9450906, 9443866, 19691550). This variant is also known as IVS12+1G>T in the literature. For these reasons, this variant has been classified as Pathogenic.

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