ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.345+4AG[2] (rs755657969)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080936 SCV000283590 likely benign Fanconi anemia 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000487298 SCV000564974 benign not specified 2015-05-05 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727370 SCV000707951 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Mendelics RCV000988220 SCV001137857 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355201 SCV001550015 uncertain significance Fanconi anemia, complementation group C no assertion criteria provided clinical testing The FANCC c.345+8_345+9del variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (rs755657969) as “with other allele” and ClinVar (classified as benign by GeneDx, likely benign by Invitae and uncertain significance by EGL Genetic Diagnostics). The variant was identified in control databases in 25 of 281,798 chromosomes at a frequency of 0.00009 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 21 of 128,724 chromosomes (freq: 0.0002), African in 2 of 24,874 chromosomes (freq: 0.00008), and Latino in 2 of 35,296 chromosomes (freq: 0.00006), while it was not observed in the Ashkenazi Jewish, East Asian, Finnish, Other or South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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