ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8695dup (p.Ile2899fs) (rs1555142816)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657337 SCV000779069 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing This duplication of one nucleotide in ATM is denoted c.8695dupA at the cDNA level and p.Ile2899AsnfsX6 (I2899NfsX6) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CAAA[dupA]TCCT. The duplication causes a frameshift which changes an Isoleucine to an Asparagine at codon 2899, and creates a premature stop codon at position 6 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 pathogenic.

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