ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)

dbSNP: rs397514492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408484 SCV002711499 pathogenic Inborn genetic diseases 2020-12-18 criteria provided, single submitter clinical testing The p.Q62* pathogenic mutation (also known as c.184C>T), located in coding exon 2 of the HINT1 gene, results from a C to T substitution at nucleotide position 184. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This mutation was detected in a compound heterozygous state in siblings presenting with a Charcot-Marie-Tooth disease phenotype (Zimo M et al. Nat Genet, 2012 Oct;44:1080-3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
OMIM RCV000030857 SCV000053532 pathogenic Autosomal recessive axonal neuropathy with neuromyotonia 2012-10-01 no assertion criteria provided literature only

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