ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.3986C>T (p.Thr1329Met)

gnomAD frequency: 0.00004  dbSNP: rs555708380
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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 RCV000353910 SCV000416481 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261490 SCV000416482 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859965 SCV002200610 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1329 of the LCT protein (p.Thr1329Met). This variant is present in population databases (rs555708380, gnomAD 0.01%). 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: 331181). 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: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.

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