ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093352 SCV001250290 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
DASA RCV001181782 SCV002061185 likely pathogenic Familial hypercholesterolemia 2022-01-05 criteria provided, single submitter clinical testing The variant creates a premature translational stop signal c.6253C>T;p.(Arg2085*) in APOB gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs121918386, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851947 SCV002230906 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-03-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2085*) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). This variant is present in population databases (rs121918386, gnomAD 0.004%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17887). This variant is also known as C to T at nucleotide 6381. This premature translational stop signal has been observed in individual(s) with familial hypobetalipoproteinemia (PMID: 2725600).
OMIM RCV000019476 SCV000039769 pathogenic Familial hypobetalipoproteinemia 1989-06-15 no assertion criteria provided literature only

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