ClinVar Miner

Submissions for variant NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) (rs202017590)

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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 RCV000292897 SCV000398469 uncertain significance Norum disease 2017-04-28 criteria provided, single submitter clinical testing The LCAT c.1039C>T (p.Arg347Cys) missense variant has been reported in one study in which it is found in two patients with lecithin-cholesterol acyltransferase (LCAT) deficiency in a compound heterozygous state (Holleboom et al. 2011). The patients are described as having corneal opacification but no renal issues, suggetsing a partial LCAT deficiency. The p.Arg347Cys variant was absent from 100 controls and is reported at a frequency of 0.00029 in the European (non-Finnish) population of the Exome Aggregation Consortium. Functional studies in COS7 cells demonstrated a mildly reduced activity of the p.Arg347Cys variant protein to between 35% and 56% of wild type. Based on the evidence, the p.Arg347Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for lecithin-cholesterol acyltransferase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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