ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys)

gnomAD frequency: 0.00006  dbSNP: rs753526426
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249245 SCV000320247 uncertain significance Cardiovascular phenotype 2015-09-10 criteria provided, single submitter clinical testing The p.E2655K variant (also known as c.7963G>A), located in coding exon 63 of the FBN2 gene, results from a G to A substitution at nucleotide position 7963. The glutamic acid at codon 2655 is replaced by lysine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278246 SCV002565972 uncertain significance Ehlers-Danlos syndrome 2020-02-01 criteria provided, single submitter clinical testing

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