ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.678A>G (p.Pro226=) (rs558390128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000267552 SCV000472755 uncertain significance Hyperlipoproteinemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589102 SCV000696014 benign not provided 2017-06-07 criteria provided, single submitter clinical testing Variant summary: The LPL c.678A>G (p.Pro226Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF. This variant was found in 300/121406 control chromosomes (6 homozygotes), predominantly observed in the South Asian subpopulation at a frequency of 0.01805 (298/16510). This frequency is about 5.4 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 South Asian origin. The variant of interest has not been reported in affected individuals via publications. Taken together, this variant is classified as benign.

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