ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.12064C>T (p.Arg4022Trp) (rs138019311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423018 SCV000519695 benign not specified 2016-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000423018 SCV000594750 uncertain significance not specified 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000960022 SCV001106967 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281923 SCV001157591 uncertain significance none provided 2020-07-04 criteria provided, single submitter clinical testing The FAT4 c.12064C>T; p.Arg4022Trp variant (rs138019311), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 380887). This variant is found in the Ashkenazi Jewish population with an overall allele frequency of 1.4% (150/10370 alleles, including three homozygotes) in the Genome Aggregation Database. The arginine at codon 4022 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Although its population frequency does not suggest an association with disease, due to limited information, the clinical significance of the p.Arg4022Trp variant is uncertain at this time.

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