ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.414A>G (p.Ala138=)

gnomAD frequency: 0.00001  dbSNP: rs368265641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921100 SCV002188882 uncertain significance not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change affects codon 138 of the FN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FN1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368265641, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1415865). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV005016833 SCV005648086 uncertain significance Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2024-03-19 criteria provided, single submitter clinical testing

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