ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly)

gnomAD frequency: 0.00001  dbSNP: rs774272417
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002068547 SCV002475130 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243297 SCV003939678 likely benign Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Inherited Neuropathy Consortium RCV000789084 SCV000928433 uncertain significance Hereditary motor neuron disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447162 SCV004174676 uncertain significance Perry syndrome 2016-01-06 no assertion criteria provided literature only

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