ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1173C>T (p.His391=)

gnomAD frequency: 0.00007  dbSNP: rs149097297
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231195 SCV000291594 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584609 SCV000690956 likely benign Hypercholesterolemia, familial, 1 2017-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327147 SCV002633029 likely benign Cardiovascular phenotype 2020-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000231195 SCV002797380 likely benign Hypercholesterolemia, autosomal dominant, 3 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326383 SCV004032952 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing PCSK9: BP4, BP7
All of Us Research Program, National Institutes of Health RCV000231195 SCV004836574 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-01-11 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820009 SCV005441508 likely benign Familial hypercholesterolemia 2023-07-07 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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