ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.101G>T (p.Arg34Leu)

gnomAD frequency: 0.00001  dbSNP: rs28929476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508677 SCV001714993 uncertain significance not provided 2020-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496420 SCV002786531 uncertain significance Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate 2022-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001508677 SCV003440476 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This variant is also known as APOA1 Baltimore and Arg10>Leu. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 17920). This missense change has been observed in individual(s) with clinical features of APOA1-related conditions (PMID: 2108924). This variant is present in population databases (rs28929476, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 34 of the APOA1 protein (p.Arg34Leu).
OMIM RCV000019513 SCV000039810 pathogenic APOLIPOPROTEIN A-I (BALTIMORE) 1990-04-01 no assertion criteria provided literature only

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