ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1259_1260insCG (p.Ala421Valfs) (rs730881956)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160965 SCV000211674 pathogenic Hereditary cancer-predisposing syndrome 2014-08-21 criteria provided, single submitter clinical testing The c.1259_1260insCG (aka c.1258_1259dupCG) mutation in the SMAD4 gene causes a frameshift starting with codon Alanine 421, changes this amino acid to a Valine residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Ala421ValfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The normal sequence with the bases that are duplicated in braces is: TGGG{CG}TGCA. The variant is found in SMAD4 panel(s).

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