ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.569T>C (p.Phe190Ser)

gnomAD frequency: 0.00001  dbSNP: rs1004490491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005383795 SCV006048273 uncertain significance Cardiovascular phenotype 2025-02-26 criteria provided, single submitter clinical testing The c.569T>C (p.F190S) alteration is located in exon 6 (coding exon 6) of the APOB gene. This alteration results from a T to C substitution at nucleotide position 569, causing the phenylalanine (F) at amino acid position 190 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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