ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.869G>A (p.Arg290His)

gnomAD frequency: 0.00010  dbSNP: rs150990682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320616 SCV001511411 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FN1 protein function. ClinVar contains an entry for this variant (Variation ID: 1020947). This variant has not been reported in the literature in individuals affected with FN1-related conditions. This variant is present in population databases (rs150990682, gnomAD 0.02%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 290 of the FN1 protein (p.Arg290His).
Fulgent Genetics, Fulgent Genetics RCV002499621 SCV002781714 uncertain significance Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035012 SCV004872511 likely benign Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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