ClinVar Miner

Submissions for variant NM_000483.5(APOC2):c.163G>A (p.Ala55Thr)

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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 RCV002394919 SCV002703050 uncertain significance Cardiovascular phenotype 2022-04-21 criteria provided, single submitter clinical testing The p.A55T variant (also known as c.163G>A), located in coding exon 2 of the APOC2 gene, results from a G to A substitution at nucleotide position 163. The alanine at codon 55 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025817 SCV005648366 uncertain significance Familial apolipoprotein C-II deficiency 2024-03-01 criteria provided, single submitter clinical testing

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