ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.46A>G (p.Met16Val)

gnomAD frequency: 0.00001  dbSNP: rs1390412870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707263 SCV000836353 uncertain significance Fanconi anemia 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the FANCC protein (p.Met16Val). This variant is not present in population databases (gnomAD no frequency). 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: 583038). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469272 SCV002765926 uncertain significance not specified 2022-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493251 SCV002789055 uncertain significance Fanconi anemia complementation group C 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532865 SCV003633348 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.46A>G (p.M16V) alteration is located in exon 2 (coding exon 1) of the FANCC gene. This alteration results from a A to G substitution at nucleotide position 46, causing the methionine (M) at amino acid position 16 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000707263 SCV002081316 uncertain significance Fanconi anemia 2018-07-29 no assertion criteria provided clinical testing

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