ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.9365T>C (p.Met3122Thr)

gnomAD frequency: 0.00001  dbSNP: rs371686578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523696 SCV000621079 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing The M3120T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M3120T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The M3120T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics, Fulgent Genetics RCV005027615 SCV005657507 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-28 criteria provided, single submitter clinical testing

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