ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)

dbSNP: rs868193249
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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 RCV001877509 SCV002142631 pathogenic Hypercholesterolemia, familial, 4 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe48Serfs*8) in the LDLRAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLRAP1 are known to be pathogenic (PMID: 11326085, 12464675). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDLRAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373822). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001877509 SCV003831343 likely pathogenic Hypercholesterolemia, familial, 4 2022-11-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001877509 SCV004173467 pathogenic Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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