ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6352del (p.Glu2118fs) (rs1555116357)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657348 SCV000779080 likely pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.6352delG at the cDNA level and p.Glu2118LysfsX2 (E2118KfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAA[delG]AAGT. The deletion causes a frameshift which changes a Glutamic Acid to a Lysine at codon 2118, and creates a premature stop codon at position 2 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.

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