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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