ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)

gnomAD frequency: 0.00001  dbSNP: rs775905979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473008 SCV000553184 likely benign Congenital contractural arachnodactyly 2023-01-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001161 SCV001158312 uncertain significance not specified 2019-03-26 criteria provided, single submitter clinical testing The FBN2 c.7058G>A; p.Arg2353His variant (rs775905979), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 411818). This variant is only observed on 3 out of 250,820 allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 2353 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg2353His variant is uncertain at this time.

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