ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.1714A>G (p.Ile572Val)

gnomAD frequency: 0.00051  dbSNP: rs138096265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002917942 SCV003251961 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 572 of the FAT1 protein (p.Ile572Val). This variant is present in population databases (rs138096265, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with FAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2045122). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002917943 SCV003681713 uncertain significance Inborn genetic diseases 2025-02-19 criteria provided, single submitter clinical testing The c.1714A>G (p.I572V) alteration is located in exon 2 (coding exon 1) of the FAT1 gene. This alteration results from a A to G substitution at nucleotide position 1714, causing the isoleucine (I) at amino acid position 572 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002917942 SCV003929623 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004548394 SCV004786357 likely benign FAT1-related disorder 2023-12-27 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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