ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)

dbSNP: rs28931574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504810 SCV002794558 pathogenic Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate 2021-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556050 SCV004294953 pathogenic not provided 2023-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects APOA1 function (PMID: 17665932, 21296086, 22952757, 23233678, 27464946). 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 expected to disrupt APOA1 protein function. ClinVar contains an entry for this variant (Variation ID: 17917). This variant is also known as glycine to arginine-26 substitution, ApoA-I Iowa, or G26R. This missense change has been observed in individual(s) with autosomal dominant systemic amyloidosis (PMID: 2123470). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 50 of the APOA1 protein (p.Gly50Arg).
OMIM RCV000019506 SCV000039803 pathogenic Familial amyloid polyneuropathy, Iowa type 1990-10-01 no assertion criteria provided literature only

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