Total submissions: 2
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 |