ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6313+5G>C

dbSNP: rs878853688
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272768 SCV002556951 uncertain significance Marfan syndrome 2021-07-20 criteria provided, single submitter clinical testing This is a de novo variant in this patient (parental studies for this variant performed). RNA studies previously performed on DNA from this patient - classified as a VUS variant: The RNA studies findings confirm that this variant effect aberrant splicing, however quantitative estimates indicates the aberrant transcript (FBN1:r.6313_6314ins57) is present at the limit of detection of the assay (~10%) (ie. wildtype FBN1:r.= : aberrant FBN1:r.6313_6314ins57 transcript ratio of appx 90:10 from the total mRNA.

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