ClinVar Miner

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

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Total submissions: 4
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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.
Natera, Inc. RCV000671064 SCV001457659 likely pathogenic Fanconi anemia, complementation group C 2020-09-16 no assertion criteria provided clinical testing

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