ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8305_8317del (p.Trp2769fs) (rs786202318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165065 SCV000215767 pathogenic Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000484455 SCV000567498 pathogenic not provided 2015-07-31 criteria provided, single submitter clinical testing This deletion of 13 nucleotides in ATM is denoted c.8305_8317del13 at the cDNA level and p.Trp2769LeufsX33 (W2769LfsX33) at the protein level. The surrounding sequence is TGAA[del13]CTGT. The deletion causes a frameshift, which changes a Tryptophan to a Leucine at codon 2769, and creates a premature stop codon at position 33 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic. The presence of
Invitae RCV000627855 SCV000748739 pathogenic Ataxia-telangiectasia syndrome 2018-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2769Leufs*33) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 185616). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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