ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.849A>G (p.Gln283=)

dbSNP: rs2134968632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015253 SCV002287115 uncertain significance Fanconi anemia 2022-01-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 283 of the FANCC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCC protein.
Ambry Genetics RCV002443019 SCV002680670 likely benign Hereditary cancer-predisposing syndrome 2020-09-19 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.

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