ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8134G>A (p.Gly2712Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004386115 SCV004869799 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.8128G>A (p.G2710S) 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 8128, causing the glycine (G) at amino acid position 2710 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004588533 SCV005079717 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005023503 SCV005659963 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-18 criteria provided, single submitter clinical testing

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