ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe)

dbSNP: rs368531137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997173 SCV001152363 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416281 SCV002723759 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.2020C>T (p.L674F) alteration is located in exon 18 (coding exon 18) of the DCTN1 gene. This alteration results from a C to T substitution at nucleotide position 2020, causing the leucine (L) at amino acid position 674 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549965 SCV003266155 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-09-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 674 of the DCTN1 protein (p.Leu674Phe). This variant is present in population databases (rs368531137, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 808776). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DCTN1 protein function. 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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