ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)

gnomAD frequency: 0.00001  dbSNP: rs544608488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502315 SCV000594435 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV001222150 SCV001394237 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383966 SCV002697245 uncertain significance Inborn genetic diseases 2018-11-27 criteria provided, single submitter clinical testing The p.A4584T variant (also known as c.13750G>A), located in coding exon 77 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 13750. The alanine at codon 4584 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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