ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4559T>G (p.Val1520Gly)

gnomAD frequency: 0.00004  dbSNP: rs370343584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000978352 SCV001126280 likely benign not provided 2023-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503124 SCV002806032 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550546 SCV003624762 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.4559T>G (p.V1520G) alteration is located in exon 28 (coding exon 28) of the FN1 gene. This alteration results from a T to G substitution at nucleotide position 4559, causing the valine (V) at amino acid position 1520 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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