ClinVar Miner

Submissions for variant NM_006486.3(FBLN1):c.451G>A (p.Gly151Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340712 SCV004047376 uncertain significance Synpolydactyly type 2 criteria provided, single submitter clinical testing The missense variant in c.451G>A in FBLN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly151Arg variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 0.003535% in gnomAD database. This variant has not been reported to the ClinVar database. The amino acid Gly at position 151 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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