ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu)

dbSNP: rs1403208705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205129 SCV001376368 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-07-25 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 not expected to disrupt DCTN1 protein function. ClinVar contains an entry for this variant (Variation ID: 936348). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1181 of the DCTN1 protein (p.Pro1181Leu).
Ambry Genetics RCV002451430 SCV002615309 uncertain significance Inborn genetic diseases 2022-08-15 criteria provided, single submitter clinical testing The p.P1181L variant (also known as c.3542C>T), located in coding exon 30 of the DCTN1 gene, results from a C to T substitution at nucleotide position 3542. The proline at codon 1181 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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