ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)

dbSNP: rs1419677503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021415 SCV001183029 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-17 criteria provided, single submitter clinical testing The p.E130D variant (also known as c.390A>T), located in coding exon 4 of the FANCC gene, results from an A to T substitution at nucleotide position 390. The glutamic acid at codon 130 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001051936 SCV001216121 uncertain significance Fanconi anemia 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 130 of the FANCC protein (p.Glu130Asp). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 824370). 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: "Probably Damaging"; 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.
Baylor Genetics RCV001293973 SCV001482699 uncertain significance Fanconi anemia complementation group C 2019-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001051936 SCV002081277 uncertain significance Fanconi anemia 2018-08-24 no assertion criteria provided clinical testing

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