ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.66G>A (p.Trp22Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141132 SCV003820940 pathogenic Hypercholesterolemia, familial, 4 2022-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003141132 SCV004324458 pathogenic Hypercholesterolemia, familial, 4 2023-09-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive hypercholesterolemia (PMID: 11326085). ClinVar contains an entry for this variant (Variation ID: 2437212). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp22*) 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).

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