ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5098C>G (p.Gln1700Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004386107 SCV004869783 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.5098C>G (p.Q1700E) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a C to G substitution at nucleotide position 5098, causing the glutamine (Q) at amino acid position 1700 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005030383 SCV005662291 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-02 criteria provided, single submitter clinical testing

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