Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000301253 | SCV000416543 | uncertain significance | Lactose intolerance | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000355458 | SCV000416544 | uncertain significance | Congenital lactase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002521295 | SCV002967349 | uncertain significance | not provided | 2022-06-25 | 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 331212). This variant has not been reported in the literature in individuals affected with LCT-related conditions. This variant is present in population databases (rs761296720, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 107 of the LCT protein (p.Glu107Lys). |