ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)

dbSNP: rs2047932647
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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 RCV001213489 SCV001385121 likely pathogenic Charcot-Marie-Tooth disease axonal type 2O 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 593 of the DYNC1H1 protein (p.Val593Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with DYNC1H1-related clinical features (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 943318). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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