ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4027C>T (p.Pro1343Ser)

gnomAD frequency: 0.00001  dbSNP: rs374427541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239352 SCV000296917 uncertain significance Hypercholesterolemia, familial, 1 2015-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001837789 SCV001421317 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356336 SCV002622351 uncertain significance Cardiovascular phenotype 2016-10-21 criteria provided, single submitter clinical testing The p.P1343S variant (also known as c.4027C>T), located in coding exon 25 of the APOB gene, results from a C to T substitution at nucleotide position 4027. The proline at codon 1343 is replaced by serine, an amino acid with some similar properties. This variant was previously reported in the SNPDatabase as rs374427541. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. Based on data from ExAC, the T allele has an overall frequency of less than 0.01% (3/106208). This amino acid position is well conserved in available vertebrate species. 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.

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