ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10807C>T (p.His3603Tyr)

gnomAD frequency: 0.00001  dbSNP: rs750646887
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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 RCV002418636 SCV002726040 uncertain significance Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing The p.H3603Y variant (also known as c.10807C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 10807. The histidine at codon 3603 is replaced by tyrosine, an amino acid with similar 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.
New York Genome Center RCV003227927 SCV003925094 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-04-28 criteria provided, single submitter clinical testing

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