ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) (rs1555411400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763907 SCV000894848 uncertain significance Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000658400 SCV000780172 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYNC1H1 gene. The A3452T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A3452T variant is not observed in large population cohorts (Lek et al., 2016). The A3452T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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