ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.3091G>A (p.Val1031Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003350252 SCV004074198 uncertain significance Inborn genetic diseases 2023-06-22 criteria provided, single submitter clinical testing The c.3091G>A (p.V1031M) alteration is located in exon 20 (coding exon 20) of the FN1 gene. This alteration results from a G to A substitution at nucleotide position 3091, causing the valine (V) at amino acid position 1031 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730555 SCV004526709 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029999 SCV005648562 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2024-06-04 criteria provided, single submitter clinical testing

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