ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.460-1G>A

dbSNP: rs2124688583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975710 SCV002254953 likely pathogenic Hypercholesterolemia, familial, 4 2021-08-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with LDLRAP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 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).
Institute of Human Genetics, University Hospital Muenster RCV004584455 SCV002577958 pathogenic See cases 2022-01-20 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP3
Genome-Nilou Lab RCV001975710 SCV004174039 pathogenic Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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