ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.379G>A (p.Asp127Asn)

gnomAD frequency: 0.00001  dbSNP: rs921646982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968231 SCV002237534 uncertain significance not provided 2021-12-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with APOA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 127 of the APOA1 protein (p.Asp127Asn).
Fulgent Genetics, Fulgent Genetics RCV002484815 SCV002792206 uncertain significance Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate 2021-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948845 SCV004764471 uncertain significance APOA1-related disorder 2023-11-03 no assertion criteria provided clinical testing The APOA1 c.379G>A variant is predicted to result in the amino acid substitution p.Asp127Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-116706949-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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