ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.965_972del (p.His322fs) (rs794728641)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182438 SCV000234783 pathogenic not provided 2013-12-18 criteria provided, single submitter clinical testing The c.950_957delACATCTAC mutation in the MEN1 gene causes a frameshift starting with codon Histidine 317, changes this amino acid to a Proline residue and creates a premature Stop codon at position 47 of the new reading frame, denoted p.His317ProfsX47. The normal sequence with the bases that are deleted in braces is: GAAC{ACATCTAC}CCCT. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of multiple endocrine neoplasia Type1. The variant is found in MEN1 panel(s).

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