ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1393delinsACATAGT (p.Arg465delinsThrTer) (rs1064796889)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486244 SCV000574059 pathogenic not provided 2017-03-10 criteria provided, single submitter clinical testing The c.1378delCinsACATAGT variant in the MEN1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant causes a frameshift starting with codon Arginine 460, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Arg460ThrfsX2. This variant is predicted to cause loss of normal protein function through protein truncation. Based on currently available evidence, we consider c.1378delCinsACATAGT to be pathogenic.

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