ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg)

dbSNP: rs794728163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223383 SCV002501688 uncertain significance not provided 2021-07-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005531 SCV004823086 uncertain significance Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 351 of the FBN1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with aortic pneumothorax and other systemic involvement (PMID: 25944730). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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