ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.13411G>A (p.Val4471Ile) (rs145835705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657948 SCV000779718 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The V4471I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V4471I variant is observed in 36/24022 (0.2%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The V4471I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175011 SCV001338520 uncertain significance not specified 2020-04-13 criteria provided, single submitter clinical testing Variant summary: FAT4 c.13411G>A (p.Val4471Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00025 in 251426 control chromosomes. To our knowledge, no occurrence of c.13411G>A in individuals affected with FAT4-related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000657948 SCV001662041 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing

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