ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.12763G>A (p.Glu4255Lys) (rs143513466)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519230 SCV000618237 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The E4255K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E4255K variant is observed in 56/66716 (0.08%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E4255K 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 that is conserved in mammals. However, 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286371 SCV001472931 uncertain significance none provided 2020-04-30 criteria provided, single submitter clinical testing The FAT4 c.12763G>A; p.Glu4255Lys variant (rs143513466), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 449817). This variant is found in the non-Finnish European population with an overall allele frequency of 0.10% (126/129162 alleles) in the Genome Aggregation Database. The glutamate at codon 4255 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Glu4255Lys variant is uncertain at this time.
Invitae RCV000519230 SCV001664282 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing

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