ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.413C>T (p.Pro138Leu)

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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 RCV004974983 SCV005583519 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.413C>T (p.P138L) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a C to T substitution at nucleotide position 413, causing the proline (P) at amino acid position 138 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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