ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7701_7702del (p.Asn2567fs) (rs1064793359)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485065 SCV000565904 pathogenic not provided 2015-03-09 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in ATM is denoted c.7701_7702delCA at the cDNA level and p.Asn2567LysfsX3 (N2567KfsX3) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAAA[CA]GAGA. The deletion causes a frameshift, which changes an Asparagine to a Lysine at codon 2567, and creates a premature stop codon at position 3 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

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