ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)

dbSNP: rs1201229554
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560474 SCV000644859 pathogenic Hypercholesterolemia, familial, 4 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly24Alafs*32) 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 premature translational stop signal has been observed in individual(s) with hypercholesterolemia (PMID: 11326085). ClinVar contains an entry for this variant (Variation ID: 468290). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV000993947 SCV002502003 pathogenic not provided 2022-02-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000560474 SCV002811479 pathogenic Hypercholesterolemia, familial, 4 2021-08-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000560474 SCV003820929 pathogenic Hypercholesterolemia, familial, 4 2023-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000993947 SCV003921431 pathogenic not provided 2022-10-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 11326085, 34037665)
Genome-Nilou Lab RCV000560474 SCV004173323 pathogenic Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000560474 SCV000025220 pathogenic Hypercholesterolemia, familial, 4 2001-05-18 no assertion criteria provided literature only
Natera, Inc. RCV001829587 SCV002085918 pathogenic Familial hypercholesterolemia 2020-10-12 no assertion criteria provided clinical testing

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