ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4162C>T (p.Arg1388Cys)

dbSNP: rs267599185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001137843 SCV001297829 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001137844 SCV001297830 uncertain significance Familial hypobetalipoproteinemia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002326785 SCV002630410 uncertain significance Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing The p.R1388C variant (also known as c.4162C>T), located in coding exon 25 of the APOB gene, results from a C to T substitution at nucleotide position 4162. The arginine at codon 1388 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005213204 SCV005854846 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-04-17 criteria provided, single submitter clinical testing

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