ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp)

dbSNP: rs1030053524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253568 SCV001429355 uncertain significance Perry syndrome 2019-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, University Of Miami RCV001253568 SCV004174510 uncertain significance Perry syndrome 2016-01-06 no assertion criteria provided literature only

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