ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.127G>A (p.Val43Met)

gnomAD frequency: 0.00002  dbSNP: rs373545875
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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 RCV002017428 SCV002291945 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 43 of the APOA1 protein (p.Val43Met). This variant is present in population databases (rs373545875, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with APOA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1501391). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APOA1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002386878 SCV002693833 uncertain significance Cardiovascular phenotype 2023-06-08 criteria provided, single submitter clinical testing The c.127G>A (p.V43M) alteration is located in exon 3 (coding exon 2) of the APOA1 gene. This alteration results from a G to A substitution at nucleotide position 127, causing the valine (V) at amino acid position 43 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486631 SCV002801415 uncertain significance Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate 2022-03-22 criteria provided, single submitter clinical testing

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