ClinVar Miner

Submissions for variant NM_001079673.2(FNDC3A):c.2130A>T (p.Arg710Ser)

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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 RCV004916638 SCV005581472 uncertain significance not specified 2024-11-11 criteria provided, single submitter clinical testing The c.2130A>T (p.R710S) alteration is located in exon 19 (coding exon 18) of the FNDC3A gene. This alteration results from a A to T substitution at nucleotide position 2130, causing the arginine (R) at amino acid position 710 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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