ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)

gnomAD frequency: 0.00001  dbSNP: rs752851562
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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 RCV002912930 SCV003247717 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-10-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DCTN1 protein function. This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs752851562, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 923 of the DCTN1 protein (p.Pro923Leu).
PreventionGenetics, part of Exact Sciences RCV003403940 SCV004118751 uncertain significance DCTN1-related disorder 2023-03-01 criteria provided, single submitter clinical testing The DCTN1 c.2768C>T variant is predicted to result in the amino acid substitution p.Pro923Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-74593138-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV005321259 SCV005986172 uncertain significance Inborn genetic diseases 2024-12-25 criteria provided, single submitter clinical testing The c.2768C>T (p.P923L) alteration is located in exon 24 (coding exon 24) of the DCTN1 gene. This alteration results from a C to T substitution at nucleotide position 2768, causing the proline (P) at amino acid position 923 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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