ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu)

gnomAD frequency: 0.00002  dbSNP: rs763427780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050536 SCV001214651 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-04-06 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (ALS) (PMID: 25299611). 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: 847069). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 211 of the DCTN1 protein (p.Pro211Leu).
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447315 SCV004174763 uncertain significance Perry syndrome 2016-01-06 no assertion criteria provided literature only

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