ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6379+1G>A (rs397515833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035242 SCV000058888 likely pathogenic Marfan syndrome 2011-04-22 criteria provided, single submitter clinical testing This variant 6379+1G>A has not been reported in the literature. However, it is p redicted to cause abnormal splicing because the nucleotide substitution occurs i n a highly conserved splice consensus sequence. A different nucleotide change at the same position (6379+1G>T) has been previously reported in 1 individual with a clinical diagnosis of Marfan syndrome, supporting a pathogenic role for 6379+ 1G>A variant (Attanasio 2008). As such, this variant is likely to be pathogenic.
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000035242 SCV000889970 pathogenic Marfan syndrome 2018-05-03 criteria provided, single submitter clinical testing

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