ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.89-1G>C

dbSNP: rs755104973
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000005045 SCV000823986 pathogenic Hypercholesterolemia, familial, 4 2023-08-16 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. ClinVar contains an entry for this variant (Variation ID: 4779). Disruption of this splice site has been observed in individual(s) with autosomal recessive hypercholesterolemia (PMID: 12016260, 15485476, 28965616). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs755104973, gnomAD 0.0009%). 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).
Fulgent Genetics, Fulgent Genetics RCV000005045 SCV002811523 pathogenic Hypercholesterolemia, familial, 4 2021-09-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000005045 SCV003820918 pathogenic Hypercholesterolemia, familial, 4 2022-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000005045 SCV004173378 pathogenic Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000005045 SCV000025221 pathogenic Hypercholesterolemia, familial, 4 2003-09-05 no assertion criteria provided literature only
Natera, Inc. RCV001826420 SCV002085920 pathogenic Familial hypercholesterolemia 2021-06-23 no assertion criteria provided clinical testing

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