ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)

dbSNP: rs121908324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000005039 SCV001201672 pathogenic Hypercholesterolemia, familial, 4 2023-09-27 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with autosomal recessive hypercholesterolemia (PMID: 11326085). It has also been observed to segregate with disease in related individuals. 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). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 4773). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000005039 SCV002017137 pathogenic Hypercholesterolemia, familial, 4 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000005039 SCV002776831 pathogenic Hypercholesterolemia, familial, 4 2021-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000005039 SCV004173334 pathogenic Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000005039 SCV000025215 pathogenic Hypercholesterolemia, familial, 4 2001-05-18 no assertion criteria provided literature only

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