ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11428C>T (p.His3810Tyr)

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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 RCV004974954 SCV005579861 uncertain significance Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing The c.11422C>T (p.H3808Y) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a C to T substitution at nucleotide position 11422, causing the histidine (H) at amino acid position 3808 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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