ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6976A>G (p.Thr2326Ala)

gnomAD frequency: 0.00009  dbSNP: rs757774648
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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 RCV002101389 SCV002394435 likely benign not provided 2024-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003339926 SCV004067697 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.6976A>G (p.T2326A) alteration is located in exon 6 (coding exon 6) of the FAT4 gene. This alteration results from a A to G substitution at nucleotide position 6976, causing the threonine (T) at amino acid position 2326 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025702 SCV005662370 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-06-12 criteria provided, single submitter clinical testing

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