Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001045641 | SCV001209506 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2021-10-28 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 843098). This missense change has been observed in at least one individual who was not affected with DYNC1H1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces lysine, which is basic and polar, with alanine, which is neutral and non-polar, at codon 4601 of the DYNC1H1 protein (p.Lys4601Ala). |