ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5982delA (p.Glu1995Lysfs) (rs1555111855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657276 SCV000779007 likely pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.5982delA at the cDNA level and p.Glu1995LysfsX5 (E1995KfsX5) at the protein level. The normal sequence, with the base that is deleted in brackets, is GTAA[delA]GAAG. The deletion causes a frameshift which changes a Glutamic Acid to a Lysine at codon 1995, and creates a premature stop codon at position 5 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 deletion to be a likely pathogenic variant.
Invitae RCV000627913 SCV000748797 pathogenic Ataxia-telangiectasia syndrome 2017-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1995Lysfs*5) 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. 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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