ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro) (rs138045609)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764646 SCV000895755 uncertain significance Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000437358 SCV000535065 uncertain significance not provided 2018-07-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A2 gene. The T1097P variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 44/126688 (0.03%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Nevertheless, the T1097P 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.

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