ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5374_5376delinsTTTAAAGTG (p.Gly1792delinsPheLysVal)

dbSNP: rs2479729135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002284785 SCV002574395 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of one amino acid and insertion of three amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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