ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.716C>T (p.Thr239Ile)

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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 RCV004974971 SCV005583503 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.716C>T (p.T239I) 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 716, causing the threonine (T) at amino acid position 239 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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