ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) (rs147495948)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000361273 SCV000416461 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264426 SCV000416462 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001367398 SCV001563746 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1549 of the LCT protein (p.Tyr1549Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs147495948, ExAC 0.1%). This variant has not been reported in the literature in individuals with LCT-related conditions. ClinVar contains an entry for this variant (Variation ID: 331171). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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