ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu)

gnomAD frequency: 0.00002  dbSNP: rs975026607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818640 SCV000959264 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2021-03-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with DCTN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 1182 of the DCTN1 protein (p.Ser1182Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.
Clinical Genetics, Academic Medical Center RCV001700309 SCV001917824 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700309 SCV001954346 uncertain significance not provided no assertion criteria provided clinical testing

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