ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)

gnomAD frequency: 0.00013  dbSNP: rs747531733
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001760325 SCV001470869 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing The FAT4 c.1099G>A; p.Val367Ile variant (rs747531733), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.0086% (24/280332 alleles) in the Genome Aggregation Database. The valine at codon 367 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Val367Ile variant is uncertain at this time.
GeneDx RCV001760325 SCV001989728 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001760325 SCV002322885 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537935 SCV003530671 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.1099G>A (p.V367I) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a G to A substitution at nucleotide position 1099, causing the valine (V) at amino acid position 367 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003928818 SCV004740038 uncertain significance FAT4-related disorder 2023-11-22 no assertion criteria provided clinical testing The FAT4 c.1099G>A variant is predicted to result in the amino acid substitution p.Val367Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-126238665-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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