ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.289G>A (p.Val97Met) (rs1554088064)

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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 RCV000656698 SCV000778825 likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia 2018-03-29 criteria provided, single submitter clinical testing The NM_005340.6: c.289G>A variant in HINT1 was identified in a Chinese patient with autosomal recessive axonal neuropathy with neuromyotonia, segregated with the disease in his parents, and was absent from large genetic databases.

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