ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.349G>A (p.Val117Ile)

gnomAD frequency: 0.00002  dbSNP: rs781167993
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482048 SCV000571121 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 35264596, Gordon2000[Book])
Labcorp Genetics (formerly Invitae), Labcorp RCV001835817 SCV003273431 uncertain significance Fanconi anemia 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 117 of the FANCC protein (p.Val117Ile). This variant is present in population databases (rs781167993, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 421810). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003168961 SCV003880786 likely benign Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001835817 SCV002081279 uncertain significance Fanconi anemia 2018-09-22 no assertion criteria provided clinical testing

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