ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7355G>C (p.Gly2452Ala)

gnomAD frequency: 0.00004  dbSNP: rs532531549
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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 RCV003163393 SCV003862046 uncertain significance Cardiovascular phenotype 2023-01-14 criteria provided, single submitter clinical testing The p.G2452A variant (also known as c.7355G>C), located in coding exon 26 of the APOB gene, results from a G to C substitution at nucleotide position 7355. The glycine at codon 2452 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003769888 SCV004573912 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-07-28 criteria provided, single submitter clinical testing

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