ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9379A>G (p.Lys3127Glu)

dbSNP: rs369383548
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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 RCV003255700 SCV003947991 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.9373A>G (p.K3125E) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a A to G substitution at nucleotide position 9373, causing the lysine (K) at amino acid position 3125 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 RCV005029958 SCV005657508 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-10 criteria provided, single submitter clinical testing

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