ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)

dbSNP: rs606231237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lifecell International Pvt. Ltd 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, University Of Miami RCV003447101 SCV004174543 uncertain significance Charcot-Marie-Tooth disease type 2A2 2016-01-06 no assertion criteria provided literature only

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