Submissions for variant NM_000136.3(FANCC):c.165+1G>T

dbSNP: rs794726668

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000012831	SCV000487155	pathogenic	Fanconi anemia complementation group C	2016-10-14	criteria provided, single submitter	clinical testing
Invitae	RCV001221363	SCV001393403	pathogenic	Fanconi anemia	2019-08-18	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 2 of the FANCC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another FANCC variant in individuals affected with Fanconi anemia and to segregate with disease in families (PMID: 20869034). ClinVar contains an entry for this variant (Variation ID: 12051). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20869034). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001588811	SCV001824150	pathogenic	not provided	2019-08-07	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22588721, 30355602, 28146134, 20869034, 25236480, 22426302, 25525159)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001588811	SCV002818196	pathogenic	not provided	2022-12-17	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001588811	SCV004224295	pathogenic	not provided	2023-02-15	criteria provided, single submitter	clinical testing	PP1_strong, PP5, PM2, PS3, PS4_moderate, PVS1_strong
OMIM	RCV000012831	SCV000033071	pathogenic	Fanconi anemia complementation group C	2010-10-08	no assertion criteria provided	literature only
Leiden Open Variation Database	RCV000012831	SCV001365309	pathogenic	Fanconi anemia complementation group C	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
GeneReviews	RCV000012831	SCV001737416	not provided	Fanconi anemia complementation group C		no assertion provided	literature only
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000012831	SCV001984200	pathogenic	Fanconi anemia complementation group C	2020-08-18	flagged submission	clinical testing
Natera, Inc.	RCV001221363	SCV002081302	pathogenic	Fanconi anemia	2017-03-17	no assertion criteria provided	clinical testing