ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1322G>A (p.Trp441Ter) (rs104894260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518947 SCV000617597 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing This variant is denoted MEN1 c.1307G>A at the cDNA level and p.Trp436Ter (W436X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon(TGG>TAG), and is predicted to cause loss of normal protein function through protein truncation. This variant has beenreported several individuals with a personal and family history of multiple endocrine neoplasia type 1(Chandrasekharappa 1997, Mayr 1998, Schaaf 2007) and is considered pathogenic
OMIM RCV000018167 SCV000038446 pathogenic Multiple endocrine neoplasia, type 1 1997-04-18 no assertion criteria provided literature only

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