ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.112T>C (p.Cys38Arg) (rs762701283)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Group,Huashan Hospital, Fudan University RCV000656699 SCV000778824 likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia 2018-03-29 criteria provided, single submitter clinical testing The NM_005340.6: c.112T>C variant in HINT1 gene was identified in a Chinese patient with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM), segregated with the disease in her parents, and was absent or rarely reported in large genetic databases.

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