ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) (rs41281202)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120969 SCV000211068 benign not specified 2014-08-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001082314 SCV000253074 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224016 SCV000281484 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV000566496 SCV000673296 likely benign Hereditary cancer-predisposing syndrome 2019-03-25 criteria provided, single submitter clinical testing Insufficient evidence;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Mendelics RCV000709083 SCV000838345 likely benign Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988205 SCV001137842 likely benign Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000120969 SCV001363458 likely benign not specified 2019-02-01 criteria provided, single submitter clinical testing Variant summary: FANCC c.1156T>C (p.Ser386Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00074 in 277128 control chromosomes, predominantly at a frequency of 0.0079 within the African subpopulation in the gnomAD database, including 1 homozygotes. The observed variant frequency within African control individuals in the gnomAD database is approximately 4.5 fold of the estimated maximal expected allele frequency for a pathogenic variant in FANCC causing Fanconi Anemia Group C phenotype (0.0018), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.1156T>C in individuals affected with Fanconi Anemia Group C and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign (3x) and once as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
ITMI RCV000120969 SCV000085137 not provided not specified 2013-09-19 no assertion provided reference population

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