Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003410811 | SCV004113677 | uncertain significance | APOB-related condition | 2023-03-28 | criteria provided, single submitter | clinical testing | The APOB c.13399G>A variant is predicted to result in the amino acid substitution p.Ala4467Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-21224895-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |