ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6554C>A (p.Thr2185Lys)

dbSNP: rs1553968839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521528 SCV000621656 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing The T2185K variant in the FAT4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T2185K variant is not observed in large population cohorts (Lek et al., 2016). The T2185K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T2185K as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005027618 SCV005662347 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-25 criteria provided, single submitter clinical testing

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