ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)

gnomAD frequency: 0.00001  dbSNP: rs768248277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, West China Hospital, Sichuan University RCV001256188 SCV001423821 pathogenic Autosomal recessive axonal neuropathy with neuromyotonia criteria provided, single submitter research A homozygous missense variant of c.355C>T (p.His119Trp) was identified in the HINT1 gene in a patient affected with axonal neuropathy with neuromyotonia, which was confirmed as having been transmitted from the parents. The p.His119 site is highly conserved during evolution. The SIFT, Polyphen-2 and Provean softwares predict that the variant is damaging.
Labcorp Genetics (formerly Invitae), Labcorp RCV001256188 SCV002141892 uncertain significance Autosomal recessive axonal neuropathy with neuromyotonia 2020-12-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs768248277, ExAC 0.009%). This sequence change replaces arginine with tryptophan at codon 119 of the HINT1 protein (p.Arg119Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant has been observed in individual(s) with clinical features of myotonia (PMID: 31400136). ClinVar contains an entry for this variant (Variation ID: 978220). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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