ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6435_6436del (p.Leu2147fs) (rs786202323)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236564 SCV000293054 pathogenic not provided 2015-07-28 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in ATM is denoted c.6435_6436delAA at the cDNA level and p.Leu2147GlnfsX13 (L2147QfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATGA[AA]GTCT. The deletion causes a frameshift, which changes a Leucine to a Glutamine at codon 2147, and creates a premature stop codon at position 13 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.

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