ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) (rs386833757)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201709 SCV000256353 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
GeneDx RCV000373656 SCV000329214 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing The c.3774dupT pathogenic variant has been reported previously in two individuals with JSRD who each had a second CC2D2A variant identified in trans (R1528C; D1556V) (Bachmann-Gagescu et al., 2015). Additionally, c.3774dupT has been reported in an individual with a clinical diagnosis of MKS who also harbored a second variant (W1182R); in this study, the variant was reported as c.3774insT (p.E1259fsX1) due to the use of alternate nomenclature (Otto et al., 2011). The c.3774dupT variant causes a frameshift starting with codon Glutamic acid 1259, which creates a premature stop codon at this position, denoted p.E1259X. It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, c.3774dupT is interpreted to be a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000373656 SCV000703056 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049721 SCV000082128 probable-pathogenic Meckel syndrome type 6 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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