ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.876+1G>C (rs202232444)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520196 SCV000621498 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL9A1 gene. The c.876+1 G>C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.876+1 G>C variant is predicted to destroy the canonical splice donor site in intron 8 and may lead to abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, no other splice site variants in the COL9A1 gene have been reported as definitive disease-causing variants in HGMD in association with COL9A1-related disorders (Stenson et al., 2014). Finally, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Ambry Genetics RCV000622963 SCV000740960 likely pathogenic Inborn genetic diseases 2015-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

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