ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) (rs863223597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198582 SCV000250271 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing The c.8061_8067delCCAGTTCinsG variant has not been reported to our knowledge. This variant causes an in-frame deletion of three amino acids (Asp-Gln-Phe) and an insertion of a Glutamic acid residue (Glu) in its place, denoted p.Asp2687_Phe2689delinsGlu. This variant occurs within calcium binding EGF-like domain 46 and affects three residues that are conserved among mammals. No nearby pathogenic variants have been reported, indicating that this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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