ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13399G>A (p.Ala4467Thr)

gnomAD frequency: 0.00001  dbSNP: rs1407600482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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.

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