ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.6479T>C (p.Ile2160Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003734131 SCV004534486 likely benign not provided 2024-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980989 SCV005581345 uncertain significance Inborn genetic diseases 2024-09-05 criteria provided, single submitter clinical testing The c.6479T>C (p.I2160T) alteration is located in exon 40 (coding exon 40) of the FN1 gene. This alteration results from a T to C substitution at nucleotide position 6479, causing the isoleucine (I) at amino acid position 2160 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005014926 SCV005648932 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2024-06-03 criteria provided, single submitter clinical testing

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