ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.4760G>A (p.Arg1587His) (rs146614143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778565 SCV000914867 uncertain significance Congenital lactase deficiency 2017-10-18 criteria provided, single submitter clinical testing The LCT c.4760G>A (p.Arg1587His) variant has been reported in one study and found in one individual with congenital lactase deficiency in a compound heterozygous state with a stop-gained variant (Torniainen et al. 2009). The p.Arg1587His variant is reported at a frequency of 0.00005 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on limited evidence, the p.Arg1587His variant is classified as a variant of unknown significance, but suspicious for pathogenicity for congenital lactase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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