Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000279445 | SCV000416497 | uncertain significance | Congenital lactase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000350754 | SCV000416498 | uncertain significance | Lactose intolerance | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001859967 | SCV002307292 | uncertain significance | not provided | 2022-10-26 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1096 of the LCT protein (p.Ala1096Thr). This variant is present in population databases (rs146467199, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with LCT-related conditions. ClinVar contains an entry for this variant (Variation ID: 331189). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LCT protein function. 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. |
Ambry Genetics | RCV002521291 | SCV003580377 | uncertain significance | Inborn genetic diseases | 2022-08-02 | criteria provided, single submitter | clinical testing | The c.3286G>A (p.A1096T) alteration is located in exon 8 (coding exon 8) of the LCT gene. This alteration results from a G to A substitution at nucleotide position 3286, causing the alanine (A) at amino acid position 1096 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |