ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6794A>C (p.Lys2265Thr)

gnomAD frequency: 0.00003  dbSNP: rs759255307
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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 RCV002493416 SCV002792848 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166056 SCV003862379 uncertain significance Inborn genetic diseases 2023-01-25 criteria provided, single submitter clinical testing The c.6794A>C (p.K2265T) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a A to C substitution at nucleotide position 6794, causing the lysine (K) at amino acid position 2265 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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