ClinVar Miner

Submissions for variant NM_001079673.2(FNDC3A):c.1331C>T (p.Ser444Leu)

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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 RCV005339694 SCV006007002 uncertain significance not specified 2025-01-21 criteria provided, single submitter clinical testing The c.1331C>T (p.S444L) alteration is located in exon 12 (coding exon 11) of the FNDC3A gene. This alteration results from a C to T substitution at nucleotide position 1331, causing the serine (S) at amino acid position 444 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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