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

Total submissions: 3

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.
Leiden Open Variation Database	RCV000671064	SCV001365328	pathogenic	Fanconi anemia, complementation group C	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.