ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3935dupG (p.Glu1313Argfs) (rs876659672)

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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 RCV000223199 SCV000276377 pathogenic Hereditary cancer-predisposing syndrome 2018-01-16 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)
Counsyl RCV000411978 SCV000485622 likely pathogenic Ataxia-telangiectasia syndrome 2016-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000483621 SCV000572793 likely pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing This duplication of one nucleotide in ATM is denoted c.3935dupG at the cDNA level and p.Glu1313ArgfsX8 (E1313RfsX8) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CAAA[dupG]AGAG. The duplication causes a frameshift which changes a Glutamic Acid to an Arginine at codon 1313, and creates a premature stop codon at position 8 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. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.
Invitae RCV000411978 SCV000547131 pathogenic Ataxia-telangiectasia syndrome 2018-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1313Argfs*8) 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: 232284). 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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