ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3197_3202dup (p.Gly1066_Pro1067dup)

dbSNP: rs1554216723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599027 SCV000710666 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing The c.3197_3202dupGTCCTG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant results in the in-frame duplication of 2 conserved amino acids. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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