ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) (rs16892134)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514696 SCV000609653 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193025 SCV000226586 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000193025 SCV000577191 uncertain significance not specified 2017-04-07 criteria provided, single submitter clinical testing The V660L variant in the CC2D2A gene has been reported previously in a patient with retinal dystrophy; however the patient also had additional variants identified in other genes associated with retinal dystrophy, and the V660L variant is listed as an artifact (Watson et al., 2014). The V660L variant is observed in 15/4106 (0.37%) alleles from individuals of Latino background, and 125/34622 (0.36%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The V660L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V660L as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000193025 SCV000246897 uncertain significance not specified 2015-02-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351496 SCV000447753 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404783 SCV000447754 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000636979 SCV000758427 benign Joubert syndrome; Meckel-Gruber syndrome 2017-11-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000193025 SCV000306429 benign not specified criteria provided, single submitter clinical testing

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