ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.213C>G (p.His71Gln) (rs11542065)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588713 SCV000696008 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing Variant summary: The LPL c.213C>G (p.His71Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a missense substitution in the Alpha/Beta hydrolase fold, the Lipase/vitellogenin, and Lipase, N-terminal domains (InterPro). 3/3 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in the large control database ExAC in 137 of 121740 control chromosomes from all ethnicities, but was predominantly observed in the African subpopulation at a frequency of 0.012973 (135/10406). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic LPL variant (0.0033541), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. However, one study identified the variant in 9 of 208 patients with familial hyperlipidemia but did not detect the variant in 171 control individuals, revealing an enrichment of the variant in patients (odds ratio of 16.33 [95% CI = 0.94 - 282.7])(As calculated using the online OR calculator tool, MEDCALC using the case controls data published in Minicocci_Athero_2015). As the 95% CI overlaps 1 there is little confidence in the strength of this assertion and additional large studies would be needed to validate this finding. Furthermore, based upon the authors own assertion, that this variant is non-pathogenic, and its higher frequency in controls, this variant is classified as a VUS-Possibly Benign until additional evidence supporting an alternative outcome are obtained.
Invitae RCV000588713 SCV001116083 benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272627 SCV001454750 likely benign Hyperlipoproteinemia, type I 2020-01-10 no assertion criteria provided clinical testing

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