ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.319G>A (p.Glu107Lys)

gnomAD frequency: 0.00001  dbSNP: rs761296720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301253 SCV000416543 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina 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).

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