Submissions for variant NM_000136.3(FANCC):c.29dup (p.Cys10fs)

dbSNP: rs878853671

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226528	SCV000283587	pathogenic	Fanconi anemia	2015-11-28	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in FANCC are known to be pathogenic (PMID: 17924555). This sequence change inserts 1 nucleotide in exon 2 of the FANCC mRNA (c.29dupG), causing a frameshift at codon 10. This creates a premature translational stop signal (p.Cys10Trpfs*2) and is expected to result in an absent or disrupted protein product.
GeneDx	RCV000484608	SCV000565918	likely pathogenic	not provided	2019-12-27	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002433945	SCV002750747	pathogenic	Hereditary cancer-predisposing syndrome	2021-09-21	criteria provided, single submitter	clinical testing	The c.29dupG pathogenic mutation, located in coding exon 1 of the FANCC gene, results from a duplication of G at nucleotide position 29, causing a translational frameshift with a predicted alternate stop codon (p.C10Wfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics	RCV003463635	SCV004196686	likely pathogenic	Fanconi anemia complementation group C	2023-02-08	criteria provided, single submitter	clinical testing