ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4721C>T (p.Thr1574Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003147196 SCV003833962 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246142 SCV004869780 uncertain significance Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing The c.4721C>T (p.T1574I) 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 4721, causing the threonine (T) at amino acid position 1574 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029922 SCV005662281 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-01 criteria provided, single submitter clinical testing

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