ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1213C>A (p.Pro405Thr)

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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 RCV002357908 SCV002657136 uncertain significance Cardiovascular phenotype 2024-06-07 criteria provided, single submitter clinical testing The c.1213C>A (p.P405T) alteration is located in exon 10 (coding exon 10) of the APOB gene. This alteration results from a C to A substitution at nucleotide position 1213, causing the proline (P) at amino acid position 405 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098091 SCV003231270 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-22 criteria provided, single submitter clinical testing

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