ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5168G>T (p.Ser1723Ile)

dbSNP: rs570383610
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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 RCV002334446 SCV002641111 uncertain significance Cardiovascular phenotype 2021-07-08 criteria provided, single submitter clinical testing The p.S1723I variant (also known as c.5168G>T), located in coding exon 26 of the APOB gene, results from a G to T substitution at nucleotide position 5168. The serine at codon 1723 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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