ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3413G>T (p.Cys1138Phe) (rs397515791)

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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 RCV000035169 SCV000058811 likely pathogenic Marfan syndrome 2010-12-06 criteria provided, single submitter clinical testing The 3413G>T (Cys1138Phe) variant has not been previously reported in the literat ure or been identified by our laboratory. Four other variants at this amino aci d position, Cys1138Arg, Cys1138Gly, Cys1138Tyr, and Cys1138Ser, have been report ed in individuals with clinical features consistent with Marfan syndrome (Sthene ur 2009, Comeglio 2009). This variant affects a cysteine residue and cysteine su bstitutions are a common finding in individuals with Marfan syndrome (Schrijver 1999). Cystine at amino acid position 3413 is highly conserved across different species. Therefore, this variant is likely to be pathogenic.

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