ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286612 SCV001473215 uncertain significance none provided 2019-08-13 criteria provided, single submitter clinical testing The FBN2 c.5815G>A p.Glu1939Lys variant (rs779671043), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an allele frequency of 0.0016% (4/251,270 alleles) in the Genome Aggregation Database. The glutamic acid at codon 1939 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of this variant is uncertain at this time.

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