ClinVar Miner

Submissions for variant NM_012222.2(MUTYH):c.456del (p.Lys152fs) (rs1553129349)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657380 SCV000779113 likely pathogenic not provided 2017-09-11 criteria provided, single submitter clinical testing This deletion of one nucleotide in MUTYH is denoted c.465delG at the cDNA level and p.Lys155AsnfsX16 (K155NfsX16) at the protein level. The normal sequence, with the base that is deleted in brackets, is agAA[delG]TGGC, where the capital letters are exonic and lowercase are intronic. The deletion causes a frameshift which changes a Lysine to an Asparagine at codon 155, and creates a premature stop codon at position 16 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 the currently available evidence, we consider this deletion to be a likely pathogenic variant.

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