ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799984 SCV000939678 likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia 2018-09-28 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the HINT1 mRNA. The next in-frame methionine is located at codon 78. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HINT1-related disease. This variant disrupts the N-terminus of the HINT1 protein. Other variant(s) that disrupt this region (p.Arg37Pro) have been determined to be pathogenic (PMID:22961002, 26182879, 25342199, 27549087). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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