ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7819+5G>A

dbSNP: rs2141220566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756598 SCV001986081 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Located at the intronic +5 splice site; however, the natural splice donor site of intron 63 is not predicted by in-silico analysis. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 25525159, 9401003, 18435798)
Department of Laboratory Medicine and Genetics, Samsung Medical Center RCV005050402 SCV005684936 likely pathogenic Marfan syndrome 2025-01-02 no assertion criteria provided clinical testing The NM_000138.5:c.7819+5G>A is considered to be rare in the general population database (gnomAD v2.1.1). This variant is predicted to be deleterious by in-silico analysis (SpliceAI). This variant was found in a patient with Marfan syndrome (PMID: 9401003; 18435798). This variant was found in a patient with Marfan syndrome meeting revised Ghent criteria (aortic root dilatation and a systemic score of 9 points) (Samsung Medical Center internal data). According to the ClinGen guidance for PP1/BS4 and PP4 criteria (PMID: 38103548), PP4 with weighted strength was applied. In summary, this variant was classified as a likely pathogenic variant for Marfan syndrome (PP3, PP4 with weighted strength, PS4_P, PM2_P).

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