ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)

gnomAD frequency: 0.00020  dbSNP: rs201859188
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583665 SCV001819944 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001583665 SCV002358019 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002573321 SCV003720565 uncertain significance Inborn genetic diseases 2021-09-29 criteria provided, single submitter clinical testing The c.11374C>T (p.R3792W) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a C to T substitution at nucleotide position 11374, causing the arginine (R) at amino acid position 3792 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003434312 SCV004116777 uncertain significance FAT4-related disorder 2023-03-09 criteria provided, single submitter clinical testing The FAT4 c.11380C>T variant is predicted to result in the amino acid substitution p.Arg3794Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.051% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-126373545-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001583665 SCV004564954 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing

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