ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6530A>C (p.Tyr2177Ser)

dbSNP: rs1199919734
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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 RCV002365850 SCV002658954 uncertain significance Cardiovascular phenotype 2022-10-27 criteria provided, single submitter clinical testing The p.Y2177S variant (also known as c.6530A>C), located in coding exon 26 of the APOB gene, results from an A to C substitution at nucleotide position 6530. The tyrosine at codon 2177 is replaced by serine, 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.
Fulgent Genetics, Fulgent Genetics RCV002491517 SCV002784449 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-04-07 criteria provided, single submitter clinical testing

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