Submissions for variant NM_000136.3(FANCC):c.996+1G>A (rs370510954)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000671064	SCV000796004	likely pathogenic	Fanconi anemia, complementation group C	2017-11-27	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000671064	SCV000917337	likely pathogenic	Fanconi anemia, complementation group C	2018-07-02	criteria provided, single submitter	clinical testing	Variant summary: FANCC c.996+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 121274 control chromosomes (ExAC). To our knowledge, no occurrence of c.996+1G>A in individuals affected with Fanconi Anemia Group C and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.