ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.500C>G (p.Pro167Arg)

dbSNP: rs121912719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513123 SCV003440326 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects APOA1 function (PMID: 6489332). 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 17910). This variant is also known as Pro143Arg, Apo A-I Giessen. This missense change has been observed in individual(s) with APOA1-related conditions (PMID: 6489332). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 167 of the APOA1 protein (p.Pro167Arg).
OMIM RCV000019499 SCV000039796 pathogenic APOLIPOPROTEIN A-I (GIESSEN) 1984-10-15 no assertion criteria provided literature only

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