ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.378C>T (p.Phe126=)

gnomAD frequency: 0.00001  dbSNP: rs762139262
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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 RCV001455875 SCV001659642 likely benign Familial hypercholesterolemia 2023-12-14 criteria provided, single submitter clinical testing
GENinCode PLC RCV001455875 SCV005441741 likely benign Familial hypercholesterolemia 2023-09-07 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).
Ambry Genetics RCV004992290 SCV005609347 likely benign Cardiovascular phenotype 2024-12-07 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508937 SCV000606099 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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