ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) (rs1028404937)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090290 SCV001245739 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV001215650 SCV001387404 pathogenic Autosomal recessive axonal neuropathy with neuromyotonia 2019-08-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HINT1 gene (p.Gln106*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acids of the HINT1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another HINT1 variant in several individuals affected with HINT1-related conditions (PMID: 25342199). This variant disrupts the C-terminus of the HINT1 protein. Other variant(s) that disrupt this region have been determined to be pathogenic (PMID: 22961002, 29787766). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789324 SCV000928677 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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