ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.400C>T (p.Gln134Ter)

gnomAD frequency: 0.00001  dbSNP: rs751920586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388351 SCV001589286 pathogenic Hypercholesterolemia, familial, 4 2022-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln134*) 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 present in population databases (rs751920586, gnomAD 0.0009%). 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: 1074905). For these reasons, this variant has been classified as Pathogenic.

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