ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.12641G>A (p.Arg4214His) (rs148170326)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498993 SCV000589920 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The R4214H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R4214H variant is observed in 28/66,720 (0.04%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. However, the R4214H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000498993 SCV001200668 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333189 SCV001525704 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2018-05-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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