ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.439del (p.Leu147fs)

dbSNP: rs758321083
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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 RCV001949389 SCV002240314 pathogenic Hypercholesterolemia, familial, 4 2020-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu147Serfs*15) 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 (rs758321083, ExAC 0.001%). This variant has not been reported in the literature in individuals with LDLRAP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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