ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.430-6C>T (rs11570897)

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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 RCV000404936 SCV000472752 likely benign Hyperlipoproteinemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590669 SCV000696012 benign not provided 2017-06-07 criteria provided, single submitter clinical testing Variant summary: The LPL c.430-6C>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 731/121160 control chromosomes (15 homozygotes) including ExAC, predominantly observed in the Latino subpopulation at a frequency of 0.051182 (589/11508). This frequency is about 15 times the estimated maximal expected allele frequency of a pathogenic LPL variant (0.0033541), thus this is likely a benign polymorphism found primarily in the populations of Latino origin. It has also been reported in hypertriglyceridemia patients but without evidence of causality and functional assay indicated that this variant does not affect gene splicing (Nakamura_1996). One clinical diagnostic laboratory (via ClinVar) has classified this variant as likely benign. Taken together, this variant is classified as benign.

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