ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser)

gnomAD frequency: 0.00004  dbSNP: rs142500487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658158 SCV000779929 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The P1227S variant of uncertain significance in the COL11A2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 1/15,304 (0.007%) African alleles in large population cohorts (Lek et al., 2016). The P1227S 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. Moreover, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000658158 SCV002316263 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing

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