ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln)

gnomAD frequency: 0.00009  dbSNP: rs373393333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592526 SCV001827131 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001592526 SCV002448385 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051912 SCV005685376 uncertain significance Van Maldergem syndrome 2 2024-09-13 criteria provided, single submitter clinical testing A FAT4 c.8537G>A (p.Arg2846Gln) variant was identified at a near heterozygous allelic fraction of 48.5%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant is observed on 87/1,613,416 alleles in the general population (gnomAD v.4.1.0). The FAT4 c.8537G>A (p.Arg2846Gln) variant has been reported in the ClinVar database as a variant of uncertain significance by one submitter and a likely benign variant by one submitter (ClinVar variation ID: 1220268). Computational predictors suggest that the variant does not impact FAT4 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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