ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.382A>G (p.Arg128Gly)

dbSNP: rs1664115534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001136559 SCV001296412 uncertain significance Familial hypobetalipoproteinemia 1 2017-04-28 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 RCV001136560 SCV001296413 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2017-04-28 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 RCV002365808 SCV002623848 uncertain significance Cardiovascular phenotype 2022-09-28 criteria provided, single submitter clinical testing The p.R128G variant (also known as c.382A>G), located in coding exon 4 of the APOB gene, results from an A to G substitution at nucleotide position 382. The arginine at codon 128 is replaced by glycine, an amino acid with dissimilar 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.

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