Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lifecell International Pvt. |
RCV000032766 | SCV003924046 | likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Q | criteria provided, single submitter | clinical testing | A Heterozygous Nonsense variant c.1455T>G in Exon 8 of the DHTKD1 gene that results in the amino acid substitution p.Tyr485* was identified. The observed variant is novel in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic (ClinVar ID: 39566). Based on the above evidence this variant has been classified as Likely Pathogenic according to the ACMG guidelines. | |
OMIM | RCV000032766 | SCV000056530 | pathogenic | Charcot-Marie-Tooth disease axonal type 2Q | 2012-12-07 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV003447101 | SCV004174543 | uncertain significance | Charcot-Marie-Tooth disease type 2A2 | 2016-01-06 | no assertion criteria provided | literature only |