ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter) (rs567305960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825521 SCV000966836 likely pathogenic Van Maldergem syndrome 2017-01-30 criteria provided, single submitter clinical testing The p.Arg2234* (NM_024582.4 c.6700C>T) variant in FAT4 has not been reported in the literature and was absent from large population studies. This nonsense varia nt leads to a premature termination codon at position 2234, which is predicted t o lead to a truncated or absent protein. Biallelic loss of function of the FAT4 gene has been associated with two syndromes that have overlapping features: Van Maldergem syndrome 2 / Hennekam lymphangiectasia-lymphedema syndrome 2. In summa ry, although additional studies are required to fully establish a null effect on the protein, the p.Arg2234* variant in FAT4 is likely pathogenic for Van Malder gem syndrome 2 / Hennekam lymphangiectasia-lymphedema syndrome 2 spectrum disord ers in an autosomal recessive manner based upon its predicted functional impact.

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