ClinVar Miner

Submissions for variant NM_001031737.3(CCDC78):c.492+1G>A (rs138669350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255766 SCV000321505 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing The c.492+1G>A variant in the CCDC78 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 5. It is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.492+1G>A in this individual is unknown. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports c.492+1G>A was observed in 7/4390 alleles (0.16%) from individuals of African American background and in 13/8590 alleles (0.15%) from individuals of European American background, indicating it may be a rare variant in these populations. Therefore, we interpret c.492+1G>A as a variant of uncertain significance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514652 SCV000609570 likely benign not provided 2017-06-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514652 SCV000612691 likely benign not provided 2020-03-04 criteria provided, single submitter clinical testing
Invitae RCV001087728 SCV000652746 likely benign Myopathy, centronuclear, 4 2020-12-04 criteria provided, single submitter clinical testing

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