ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.974del (p.Pro325fs) (rs1554562110)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657467 SCV000779202 pathogenic not provided 2018-02-16 criteria provided, single submitter clinical testing This deletion of one nucleotide in NBN is denoted c.974delC at the cDNA level and p.Pro325LeufsX9 (P325LfsX9) at the protein level. The normal sequence, with the base that is deleted in brackets, is GATC[delC]TCAG. The deletion causes a frameshift which changes a Proline to a Leucine at codon 325, and creates a premature stop codon at position 9 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 currently available evidence, we consider this deletion to be a pathogenic variant.

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