Submissions for variant NM_000136.3(FANCC):c.381del (p.Phe127fs)

dbSNP: rs2135588524

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001921014	SCV002188797	pathogenic	Fanconi anemia	2021-04-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe127Leufs*17) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555).
Ambry Genetics	RCV002359417	SCV002619938	pathogenic	Hereditary cancer-predisposing syndrome	2019-08-12	criteria provided, single submitter	clinical testing	The c.381delT pathogenic mutation, located in coding exon 4 of the FANCC gene, results from a deletion of one nucleotide at nucleotide position 381, causing a translational frameshift with a predicted alternate stop codon (p.F127Lfs*17). 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.