ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13196A>C (p.Lys4399Thr)

dbSNP: rs1553382300
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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 RCV004023442 SCV004906206 uncertain significance Cardiovascular phenotype 2023-09-22 criteria provided, single submitter clinical testing The c.13196A>C (p.K4399T) alteration is located in exon 29 (coding exon 29) of the APOB gene. This alteration results from a A to C substitution at nucleotide position 13196, causing the lysine (K) at amino acid position 4399 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508865 SCV000605941 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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