ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9571G>A (p.Asp3191Asn)

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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 RCV004974948 SCV005579840 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.9565G>A (p.D3189N) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 9565, causing the aspartic acid (D) at amino acid position 3189 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023765 SCV005657513 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-02-19 criteria provided, single submitter clinical testing

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