ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.91G>A (p.Val31Met)

gnomAD frequency: 0.00034  dbSNP: rs11556562
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239750 SCV001412647 uncertain significance Fanconi anemia 2024-11-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 31 of the FANCF protein (p.Val31Met). This variant is present in population databases (rs11556562, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. ClinVar contains an entry for this variant (Variation ID: 965327). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt FANCF protein function with a positive predictive value of 80%. 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.
GeneDx RCV001760264 SCV001998354 uncertain significance not provided 2019-12-05 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
Sema4, Sema4 RCV001239750 SCV002530506 uncertain significance Fanconi anemia 2021-11-16 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002480789 SCV002782324 uncertain significance Fanconi anemia complementation group F 2024-02-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002480789 SCV003833918 uncertain significance Fanconi anemia complementation group F 2019-11-25 criteria provided, single submitter clinical testing

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