ClinVar Miner

Submissions for variant NM_020975.4:c.[1942G>A];[2410G>C]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000664368 SCV000788294 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.V648I was found in trans with p.V804L mutation in an MEN2A patient (MTC at 42 yr), genotype c.[1942G>A];[2410G>C]. Six other family members had p.V648I only: one had surgery at 52 yr, no MTC. One family member with p.V804L only, had surgery at <15 yr old, no MTC. p.V648I is likely a rare polymorphism. For reports of p.V648I alone, see c.1942G>A.

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