ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7891del (p.Ser2631fs) (rs1554088726)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657369 SCV000779101 likely pathogenic not provided 2017-08-11 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.7891delT at the cDNA level and p.Ser2631ProfsX13 (S2631PfsX13) at the protein level. The normal sequence, with the base that is deleted in brackets, is CGTT[delT]CCTC. The deletion causes a frameshift which changes a Serine to a Proline at codon 2631, and creates a premature stop codon at position 13 of the new reading frame. Due to the position of the variant, nonsense-mediated decay is not expected to occur, but the variant likely causes loss of normal protein function through protein truncation. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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