ClinVar Miner

Submissions for variant NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)

gnomAD frequency: 0.00001  dbSNP: rs758216033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002409701 SCV002674881 likely pathogenic Cardiovascular phenotype 2022-02-03 criteria provided, single submitter clinical testing The p.R259* variant (also known as c.775A>T), located in coding exon 3 of the APOA5 gene, results from an A to T substitution at nucleotide position 775. This changes the amino acid from an arginine to a stop codon within coding exon 3. This alteration occurs at the 3’ terminus of the APOA5 gene and is not expected to trigger nonsense-mediated mRNA decay. However, premature stop codons are typically deleterious in nature, and this variant results in the loss of approximately 30% of the protein, including a C-terminal domain that has been implicated in lipid binding (Sun G et al. Chem Phys Lipids, 2006 Sep;143:22-8). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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