ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)

dbSNP: rs863223612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199574 SCV000250306 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Collod-Beroud et al., 2003; Frederic et al., 2009).; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 213421; Landrum et al., 2016)
Invitae RCV000633581 SCV000754827 likely benign Congenital contractural arachnodactyly 2023-11-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000199574 SCV003834034 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing

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