ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.473C>T (p.Ala158Val)

gnomAD frequency: 0.00002  dbSNP: rs776429990
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485063 SCV000565726 uncertain significance not provided 2020-08-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with prostate cancer (Lu 2015); This variant is associated with the following publications: (PMID: 25256751, 26873401, 26689913)
Invitae RCV001066884 SCV001231907 uncertain significance Fanconi anemia 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 158 of the FANCC protein (p.Ala158Val). This variant is present in population databases (rs776429990, gnomAD 0.0009%). 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: 418577). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCC 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.
Sema4, Sema4 RCV001066884 SCV002535104 uncertain significance Fanconi anemia 2022-03-17 criteria provided, single submitter curation
Ambry Genetics RCV002341128 SCV002635945 likely benign Hereditary cancer-predisposing syndrome 2022-01-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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. RCV001066884 SCV002081266 uncertain significance Fanconi anemia 2021-08-10 no assertion criteria provided clinical testing

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