ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.13174G>A (p.Val4392Ile)

gnomAD frequency: 0.00097  dbSNP: rs192910004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894328 SCV001038305 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV000894328 SCV005685244 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing A FAT1 c.13174G>A (p.Val4392Ile) variant was identified. This variant, to our knowledge, has not been reported in the medical literature and is observed on 89/279,156 alleles in the general population (gnomAD v2.1.1). Computational predictors suggest that the variant does not impact FAT1 function. This variant has been reported in the ClinVar database as a likely benign variant by two submitters (ClinVar ID: 720925). 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.
PreventionGenetics, part of Exact Sciences RCV004551676 SCV004735137 likely benign FAT1-related disorder 2023-01-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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