ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)

gnomAD frequency: 0.00001  dbSNP: rs372650987
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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 RCV002525743 SCV002996328 uncertain significance not provided 2024-10-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 395 of the FBLN5 protein (p.Arg395Trp). This variant is present in population databases (rs372650987, gnomAD 0.007%). 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: 417872). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477790 SCV000536737 uncertain significance Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2 2016-12-13 no assertion criteria provided research

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