ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)

dbSNP: rs121434303
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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 RCV002512815 SCV003442740 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. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 412 of the FBLN5 protein (p.Gly412Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FBLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 5483). 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 FBLN5 protein function. Experimental studies have shown that this missense change affects FBLN5 function (PMID: 16652333, 20007835).
OMIM RCV000005817 SCV000025999 pathogenic Macular degeneration, age-related, 3 2004-07-22 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447075 SCV004174390 uncertain significance Age-related macular degeneration 2016-01-06 no assertion criteria provided literature only

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