ClinVar Miner

Submissions for variant NM_001079673.2(FNDC3A):c.2452G>A (p.Gly818Arg)

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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 RCV004919122 SCV005581476 uncertain significance not specified 2024-11-22 criteria provided, single submitter clinical testing The c.2452G>A (p.G818R) alteration is located in exon 21 (coding exon 20) of the FNDC3A gene. This alteration results from a G to A substitution at nucleotide position 2452, causing the glycine (G) at amino acid position 818 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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