ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.344C>T (p.Thr115Met) (rs200018557)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000305319 SCV000464618 likely benign Multiple Epiphyseal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362379 SCV000464619 likely benign Stickler Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000519350 SCV000620461 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL9A1 gene. The T115M variant has not been published as pathogenic or been reported as benign to our knowledge. The T115M variant is observed in 36/8640 (0.4%) alleles from individuals of East Asian background in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016). The T115M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014).

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