ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6302C>T (p.Thr2101Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004974969 SCV005583499 uncertain significance Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing The c.6302C>T (p.T2101I) alteration is located in exon 5 (coding exon 5) of the FAT4 gene. This alteration results from a C to T substitution at nucleotide position 6302, causing the threonine (T) at amino acid position 2101 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 RCV005023766 SCV005662340 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-03-20 criteria provided, single submitter clinical testing
GeneDx RCV005110259 SCV005848577 uncertain significance not provided 2024-08-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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