ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6920_6923del (p.Leu2307fs) (rs1064793043)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480088 SCV000564654 pathogenic not provided 2015-01-02 criteria provided, single submitter clinical testing This deletion of four nucleotides in ATM is denoted c.6920_6923delTTGC at the cDNA level or p.Leu2307ProfsX2 (L2307PfxX2) at the protein level. The normal sequence with the bases that are deleted in brackets is AGTC[TTGC]CCTG. The deletion cases a frameshift,which changes a Leucine to a Proline at codon 2307, and introduces a premature stop codon at position 2 of the new reading frame. Although ATM c.6920_6923delTTGC has not to our knowledge been previously reported, 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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