ClinVar Miner

Submissions for variant NM_000483.5(APOC2):c.8C>T (p.Thr3Ile)

gnomAD frequency: 0.00134  dbSNP: rs148343756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002096391 SCV002394679 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372927 SCV002687985 uncertain significance Cardiovascular phenotype 2022-05-27 criteria provided, single submitter clinical testing The p.T3I variant (also known as c.8C>T), located in coding exon 1 of the APOC2 gene, results from a C to T substitution at nucleotide position 8. The threonine at codon 3 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available 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.

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