ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del)

dbSNP: rs2043606899
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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 RCV001058579 SCV001223162 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-08-08 criteria provided, single submitter clinical testing This variant, c.2348_2359del, results in the deletion of 4 amino acid(s) of the FBN1 protein (p.Asn783_Gly786del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with FBN1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 853712). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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