ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.*9G>A (rs4922115)

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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 RCV000372157 SCV000472763 benign Hyperlipoproteinemia, type I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000589807 SCV000696003 benign not provided 2017-06-08 criteria provided, single submitter clinical testing Variant summary: The LPL c.*9G>A variant causes a missense change involving the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. The variant of interest has been found in a large, broad control population, ExAC in 17618/121272 control chromosomes at a frequency of 0.1452767, which is approximately 43 times the estimated maximal expected allele frequency of a pathogenic LPL variant (0.0033541), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as benign.

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