ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1518G>A (p.Lys506=)

gnomAD frequency: 0.00002  dbSNP: rs903946804
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776576 SCV000912188 likely benign Familial hypercholesterolemia 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061107 SCV002431231 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-06-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002061107 SCV004845004 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-05-16 criteria provided, single submitter clinical testing
GENinCode PLC RCV000776576 SCV005441511 likely benign Familial hypercholesterolemia 2024-11-28 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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