ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr)

gnomAD frequency: 0.00003  dbSNP: rs771966365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928967 SCV002206509 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 140 of the DCTN1 protein (p.Pro140Thr). This variant is present in population databases (rs771966365, gnomAD 0.02%). This missense change has been observed in individuals with clinical features of DCTN1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1423623). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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