ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5684T>C (p.Val1895Ala)

gnomAD frequency: 0.00002  dbSNP: rs149162499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002348601 SCV002653310 uncertain significance Cardiovascular phenotype 2022-08-30 criteria provided, single submitter clinical testing The p.V1895A variant (also known as c.5684T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 5684. The valine at codon 1895 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003769889 SCV004578067 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-11-06 criteria provided, single submitter clinical testing

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