ClinVar Miner

Submissions for variant NM_005431.1(XRCC2):c.378_381delACTT (p.Leu126Phefs) (rs763401560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481611 SCV000569312 likely pathogenic not provided 2017-01-03 criteria provided, single submitter clinical testing This deletion of four nucleotides in XRCC2 is denoted c.378_381delACTT at the cDNA level and p.Leu126PhefsX7 (L126FfsX7) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACTT[delACTT]CTTA. The deletion causes a frameshift which changes a Leucine to a Phenylalanine at codon 126, and creates a premature stop codon at position 7 of the new reading frame. Even though nonsense-mediated decay is not expected to occur, it is significant since the last 155 amino acids are replaced with 6 incorrect amino acids and is predicted to cause loss of normal protein function through protein truncation. This event would result in loss of the Walker B ATPase motif (OÂ’Regan 2001). This variant has not, to our knowledge, been reported in the literature. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Mendelics RCV000709058 SCV000838292 uncertain significance Hereditary Cancer Syndrome 2018-07-02 criteria provided, single submitter clinical testing

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