ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) (rs794727533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177457 SCV000229316 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000177457 SCV000322314 pathogenic not provided 2017-04-21 criteria provided, single submitter clinical testing The c.1962 C>T variant in the COL2A1 gene has been reported previously in seven individuals from a family with Stickler syndrome (Richards et al., 2007). The c.1962 C>T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Functional studies indicate that c.1962 C>T creates an alternative donor splice site within exon 30, leading to a 35 base pair deletion that shifts the reading frame and results in premature termination of the message (Richards et al., 2007). We interpret c.1962 C>T as a pathogenic variant.

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