ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr)

dbSNP: rs144581583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010541 SCV002297271 likely benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507774 SCV002814783 uncertain significance Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2022-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002642084 SCV003541187 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.3149A>C (p.K1050T) alteration is located in exon 20 (coding exon 20) of the FN1 gene. This alteration results from a A to C substitution at nucleotide position 3149, causing the lysine (K) at amino acid position 1050 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002010541 SCV005331844 uncertain significance not provided 2023-09-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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