ClinVar Miner

Submissions for variant NM_022158.4(FN3K):c.583C>G (p.Arg195Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004916560 SCV005581384 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.583C>G (p.R195G) alteration is located in exon 5 (coding exon 5) of the FN3K gene. This alteration results from a C to G substitution at nucleotide position 583, causing the arginine (R) at amino acid position 195 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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