ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.329_330dup (p.Val111fs) (rs1561535921)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816232 SCV000956730 uncertain significance Autosomal recessive axonal neuropathy with neuromyotonia 2018-08-14 criteria provided, single submitter clinical testing This sequence change duplicates 2 nucleotides in exon 3 of the HINT1 mRNA (c.329_330dupAC), causing a frameshift at codon 111. This creates a frameshift in the last exon of the HINT1 mRNA (p.Val111Thrfs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the HINT1 protein, and to extend the protein by an additional 15 amino acids. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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