ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9815A>G (p.Tyr3272Cys)

gnomAD frequency: 0.00001  dbSNP: rs1220960430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002501002 SCV002812854 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534104 SCV003666860 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.9815A>G (p.Y3272C) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a A to G substitution at nucleotide position 9815, causing the tyrosine (Y) at amino acid position 3272 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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