ClinVar Miner

Submissions for variant NM_001079673.2(FNDC3A):c.3067A>C (p.Ile1023Leu)

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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 RCV004916634 SCV005581468 uncertain significance not specified 2024-10-19 criteria provided, single submitter clinical testing The c.3067A>C (p.I1023L) alteration is located in exon 24 (coding exon 23) of the FNDC3A gene. This alteration results from a A to C substitution at nucleotide position 3067, causing the isoleucine (I) at amino acid position 1023 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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