ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1812A>C (p.Pro604=)

gnomAD frequency: 0.00001  dbSNP: rs777190873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002205655 SCV002367426 likely benign Hypercholesterolemia, autosomal dominant, 3 2022-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326608 SCV004032953 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing PCSK9: BP4, BP7
All of Us Research Program, National Institutes of Health RCV002205655 SCV004831779 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-30 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820232 SCV005441520 likely benign Familial hypercholesterolemia 2023-12-05 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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