ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)

dbSNP: rs1567019064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693395 SCV000821263 likely pathogenic Charcot-Marie-Tooth disease axonal type 2O 2017-10-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 3387 of the DYNC1H1 protein (p.Leu3387Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has been reported to be de novo in an individual affected with DYNC1H1-related disease (Invitae). This variant is not present in population databases (ExAC no frequency).

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