ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4016G>C (p.Cys1339Ser) (rs397515798)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035185 SCV000058827 likely pathogenic Marfan syndrome 2010-12-06 criteria provided, single submitter clinical testing The 4016G>C (Cys1339Ser) variant has not been previously reported in the literat ure or been identified by our laboratory. Another variant at this position, Cys1 339Tyr, has been reported in an individual with Marfan syndrome (Loeys 2001). Th is variant affects a cysteine residue; cysteine substitutions are a common findi ng in individuals with Marfan syndrome (Schrijver 1999). Cystine at amino acid p osition 1339 is highly conserved across evolutionarily distinct species. Therefo re, this variant is likely to be pathogenic.

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