ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.4922T>C (p.Val1641Ala)

gnomAD frequency: 0.00001  dbSNP: rs557029000
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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 RCV000392927 SCV000416453 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292131 SCV000416454 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859964 SCV002187495 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1641 of the LCT protein (p.Val1641Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs557029000, ExAC 0.05%). This variant has not been reported in the literature in individuals with LCT-related conditions. ClinVar contains an entry for this variant (Variation ID: 331167). 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: "Benign"; 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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