ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) (rs886039502)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255858 SCV000322185 likely pathogenic not provided 2016-05-26 criteria provided, single submitter clinical testing This deletion of 16 nucleotides is denoted ATM c.7066_7081del16 at the cDNA level and p.Ile2356Ter (I2356X) at the protein level. The normal sequence, with the bases that are deleted in braces, is GGTC[del16]TAGA. The deletion creates a nonsense variant, which changes an Isoleucine to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered likely pathogenic.

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