ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln)

gnomAD frequency: 0.00002  dbSNP: rs121434300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000005812 SCV001976880 uncertain significance Macular degeneration, age-related, 3 2021-10-06 criteria provided, single submitter clinical testing PM2, PP3, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV001851679 SCV002154611 uncertain significance not provided 2023-08-17 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. Experimental studies have shown that this missense change does not substantially affect FBLN5 function (PMID: 20007835). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 5478). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 15269314). This variant is present in population databases (rs121434300, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 71 of the FBLN5 protein (p.Arg71Gln).
OMIM RCV000005812 SCV000025994 pathogenic Macular degeneration, age-related, 3 2004-07-22 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447070 SCV004174403 uncertain significance Age-related macular degeneration 2016-01-06 no assertion criteria provided literature only

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