ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1546_1547GT[3] (p.Ser517fs) (rs794728659)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182462 SCV000234807 pathogenic not provided 2013-10-08 criteria provided, single submitter clinical testing The c.1533_1534dupGT mutation in the MEN1 gene causes a frameshift starting with codon Serine 512, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Ser512CysfsX48. The normal sequence with the bases that are inserted in braces is: GTGT{GT}CAGG. This mutation is predicted to cause loss of normal protein function through protein truncation. Specifically, the last 99 residues are lost and replaced by 47 incorrect residues. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of multiple endocrine neoplasia type 1. The variant is found in MEN1 panel(s).
Ambry Genetics RCV000491410 SCV000579710 pathogenic Hereditary cancer-predisposing syndrome 2015-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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