ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.89-2A>G

dbSNP: rs2044137351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942204 SCV002236349 pathogenic Hypercholesterolemia, familial, 4 2021-11-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with hypercholesterolemia (PMID: 12016260, 15485476, 28965616). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 1 of the LDLRAP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LDLRAP1 are known to be pathogenic (PMID: 11326085, 12464675).

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