ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3675T>A (p.Asn1225Lys)

gnomAD frequency: 0.00008  dbSNP: rs202235021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112109 SCV002389487 likely benign not provided 2024-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004976239 SCV005579848 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.3675T>A (p.N1225K) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a T to A substitution at nucleotide position 3675, causing the asparagine (N) at amino acid position 1225 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025698 SCV005657899 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-06-14 criteria provided, single submitter clinical testing

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