ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8355C>T (p.Asn2785=)

gnomAD frequency: 0.00001  dbSNP: rs776502029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838390 SCV001668680 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436748 SCV002680588 likely benign Cardiovascular phenotype 2020-01-07 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.
GENinCode PLC RCV004820157 SCV005441628 likely benign Familial hypercholesterolemia 2024-03-04 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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