ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup)

dbSNP: rs1555631390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Amyloidosis Center, Boston University School of Medicine RCV000663430 SCV000778367 pathogenic Amyloidosis, hereditary systemic 1 2018-03-16 no assertion criteria provided clinical testing A 37 year old African American man presented with sensorimotor polyneuropathy, and myopathy in his lower extremities. Deposits of variant TTR were detected in the right shin skin using tandem mass spectrometry. A fat aspirate was Congo red positive for amyloid deposits, the patient's brother was also diagnosed with amyloidosis by sural nerve biopsy. Following nine months of diflunisal treatment (250mg/daily), the patient demonstrated progression of sensorimotor polyneuropathy, and also autonomic neuropathy. Diflunisal treatment was stopped due to lack of efficacy. The patient was found to have a six base pair duplication in TTR exon 3 (c.212_217dupAGTCTG) by DNA sequencing of the TTR gene. The patient died from recurrent aspiration pneumonia, debilitating peripheral and autonomic neuropathy.

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