ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4441G>A (p.Val1481Ile)

gnomAD frequency: 0.00004  dbSNP: rs748985164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002491533 SCV002789432 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491533 SCV004568645 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986898 SCV005472854 uncertain significance Cardiovascular phenotype 2024-10-09 criteria provided, single submitter clinical testing The c.4441G>A (p.V1481I) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a G to A substitution at nucleotide position 4441, causing the valine (V) at amino acid position 1481 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998685 SCV005624816 uncertain significance not provided 2024-09-21 criteria provided, single submitter clinical testing The APOB c.4441G>A (p.Val1481Ile) variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.000031 (4/128932 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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