Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253568 | SCV001429355 | uncertain significance | Perry syndrome | 2019-11-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001305021 | SCV001494332 | uncertain significance | Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B | 2022-02-23 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 976310). This missense change has been observed in individual(s) with clinical features of amyotrophic lateral sclerosis and/or Parkinson's disease (PMID: 18852346, 27132499). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 997 of the DCTN1 protein (p.Arg997Trp). |
Inherited Neuropathy Consortium Ii, |
RCV001253568 | SCV004174510 | uncertain significance | Perry syndrome | 2016-01-06 | no assertion criteria provided | literature only |