ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) (rs1555399361)

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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 RCV000617292 SCV000738872 likely pathogenic Cardiovascular phenotype 2017-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Structural Evidence
Integrated Genetics/Laboratory Corporation of America RCV000781359 SCV000919335 uncertain significance not specified 2018-03-12 criteria provided, single submitter clinical testing Variant summary: FBN1 c.2287T>C (p.Cys763Arg) results in a non-conservative amino acid change located in the EGF-like domain of the encoded protein sequence. Cysteins are critical for FBN1 function. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 121392 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2287T>C in individuals affected with Marfan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance-possibly pathogenic.

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