ClinVar Miner

Submissions for variant NM_022158.4(FN3K):c.188G>A (p.Arg63Lys)

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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 RCV004916558 SCV005581382 uncertain significance not specified 2024-09-30 criteria provided, single submitter clinical testing The c.188G>A (p.R63Q) alteration is located in exon 2 (coding exon 2) of the FN3K gene. This alteration results from a G to A substitution at nucleotide position 188, causing the arginine (R) at amino acid position 63 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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