ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2027C>T (p.Thr676Ile)

gnomAD frequency: 0.00001  dbSNP: rs1157714858
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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 RCV003279052 SCV004002937 uncertain significance Cardiovascular phenotype 2023-06-09 criteria provided, single submitter clinical testing The p.T676I variant (also known as c.2027C>T), located in coding exon 14 of the APOB gene, results from a C to T substitution at nucleotide position 2027. The threonine at codon 676 is replaced by isoleucine, 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.

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