ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1266A>G (p.Ser422=)

gnomAD frequency: 0.00001  dbSNP: rs752197838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Iberoamerican FH Network RCV000627184 SCV000748120 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002060704 SCV002341792 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162771 SCV003856463 likely benign Cardiovascular phenotype 2023-01-13 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.
GENinCode PLC RCV004820068 SCV005441563 likely benign Familial hypercholesterolemia 2023-12-04 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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