ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1071A>G (p.Gln357=)

dbSNP: rs1057522128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431526 SCV000526274 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002418291 SCV002718884 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-28 criteria provided, single submitter clinical testing The c.1071A>G variant (also known as p.Q357Q), located in coding exon 10 of the FANCC gene, results from an A to G substitution at nucleotide position 1071. This nucleotide substitution does not change the at codon 357. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273994 SCV001457655 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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