ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.168_170AAC[1] (p.Thr58del) (rs1553253791)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520949 SCV000620943 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing The c.171_173delAAC variant in the COL11A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.171_173delAAC variant results in an in-frame 3 base pair deletion and is predicted to cause loss of a Threonine residue at position 58 in the protein, noted as p.Thr58del. The c.171_173delAAC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the Threonine residue at position 58 is not conserved across species. We interpret c.171_173delAAC as a variant of uncertain significance.

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