ClinVar Miner

Submissions for variant NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) (rs864309526)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756132 SCV000883852 likely pathogenic not provided 2017-11-09 criteria provided, single submitter clinical testing The p.Arg373Cys variant (rs864309526) has been reported to segregate with adult onset Charcot-Marie-Tooth neuropathy in three unrelated families and has been identified in an individual who was part of a peripheral neuropathy cohort (Auer-Grumbach 2011, Cheng 2017, Laššuthová 2016, and Šafka Brozková 2013). The p.Arg373Cys is also absent from general population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. The arginine at codon 373 is highly conserved considering 11 species up to frog (Alamut software v2.10.0), and computational analyses predict that this variant does affect the structure/function of the FBLN5 protein (SIFT: damaging, PolyPhen2: probably damaging, MutationTaster: disease causing). Based on the available evidence, the p.Arg373Cys variant is classified as likely pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000202609 SCV000886431 likely pathogenic Age-related macular degeneration 3 2018-10-23 criteria provided, single submitter research
OMIM RCV000202609 SCV000257547 pathogenic Age-related macular degeneration 3 2013-07-01 no assertion criteria provided literature only

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