Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001369903 | SCV001566361 | uncertain significance | Congenital glucose-galactose malabsorption | 2021-10-29 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 69 of the SLC5A1 protein (p.Pro69Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SLC5A1-related condition (Invitae). ClinVar contains an entry for this variant (Variation ID: 1060467). 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 C65"). 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. |