ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del)

dbSNP: rs2141267678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959359 SCV002253900 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-05-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of Marfan syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This variant, c.4996_5007del, results in the deletion of 4 amino acid(s) of the FBN1 protein (p.Thr1666_Asn1669del), but otherwise preserves the integrity of the reading frame.

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