ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3725-15A>G (rs587776519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000552 SCV001585396 pathogenic Congenital contractural arachnodactyly 2020-07-08 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the FBN2 gene. It does not directly change the encoded amino acid sequence of the FBN2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with congenital contractural arachnodactyly (PMID: 9106527, 24585410). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 523). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9106527). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000552 SCV000020701 pathogenic Congenital contractural arachnodactyly 1997-04-01 no assertion criteria provided literature only

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