ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.2413A>G (p.Thr805Ala)

gnomAD frequency: 0.00019  dbSNP: rs199957523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002111164 SCV002382082 likely benign not provided 2023-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498322 SCV002813584 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045772 SCV004872476 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.2413A>G (p.T805A) alteration is located in exon 16 (coding exon 16) of the FN1 gene. This alteration results from a A to G substitution at nucleotide position 2413, causing the threonine (T) at amino acid position 805 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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