ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1071C>T (p.Gly357=)

dbSNP: rs769527337
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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 RCV000913906 SCV001059065 likely benign not provided 2018-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416129 SCV002721265 likely benign Cardiovascular phenotype 2017-11-15 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 RCV004820131 SCV005441566 likely benign Familial hypercholesterolemia 2023-03-10 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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