ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.405G>A (p.Val135=) (rs1121923)

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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 RCV000356200 SCV000472751 likely benign Hyperlipoproteinemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590676 SCV000696009 benign not provided 2017-06-07 criteria provided, single submitter clinical testing Variant summary: The LPL c.405G>A (p.Val135Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 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 4195/121380 control chromosomes (117 homozygotes) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.116997 (1217/10402). This frequency is about 35 times the estimated maximal expected allele frequency of a pathogenic LPL variant (0.0033541), thus this is a benign polymorphism found primarily in the populations of African origin. This variant was also not associated with Type 2 diabetes or lowered HDL-C levels in a case-control study from India (Ayyappa_2017). One clinical laboratory (via ClinVar) has classified this variant as likely benign. Taken together, this variant is classified as benign.

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