ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) (rs886038942)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254242 SCV000319272 likely pathogenic Cardiovascular phenotype 2014-05-23 criteria provided, single submitter clinical testing The p.C175R variant (also known as c.523T>C), located in coding exon 4 of the FBN2 gene<span style="background-color: initial;">in the EGF-like #3 domain<span style="background-color: initial;">, results from a T to C substitution at nucleotide position 523. The cysteine at codon 175 is replaced by arginine, an amino acid with highly dissimilar 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.<span style="background-color: initial;">In the ESP, this variant was not observed in 6503 samples (13,006 alleles) with coverage at this position.<span style="background-color: initial;">This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.<span style="background-color: initial;">Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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