ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1342G>A (p.Ala448Thr)

gnomAD frequency: 0.00002  dbSNP: rs752032737
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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 RCV001143013 SCV001303510 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.
Illumina Laboratory Services, Illumina RCV001143014 SCV001303511 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.
Invitae RCV001838194 SCV001393435 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027287 SCV004906208 uncertain significance Cardiovascular phenotype 2024-01-26 criteria provided, single submitter clinical testing The c.1342G>A (p.A448T) alteration is located in exon 10 (coding exon 10) of the APOB gene. This alteration results from a G to A substitution at nucleotide position 1342, causing the alanine (A) at amino acid position 448 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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