ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1914_1929dup (p.Ser644delinsArgTer) (rs864622415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581218 SCV000687344 pathogenic Hereditary cancer-predisposing syndrome 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000627508 SCV000748508 pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing The c.1914_1929dup16 pathogenic variant in the ATM gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1914_1929dup16 variant causes a frameshift starting with codon Serine 644, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Ser644ArgfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1914_1929dup16 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1914_1929dup16 as a pathogenic variant.
Invitae RCV000206738 SCV000260555 pathogenic Ataxia-telangiectasia syndrome 2018-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser644Argfs*2) 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: 220196). 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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