ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) (rs151249006)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724456 SCV000231343 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288389 SCV000346402 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352679 SCV000346403 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399033 SCV000346404 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000179143 SCV000583310 uncertain significance not specified 2017-05-30 criteria provided, single submitter clinical testing The A1353T variant in the COL11A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state in any control individuals, the A1353T variant is observed in 45/51,856 alleles (0.087%) from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The A1353T variant is a non-conservative amino acid substitution, which occurs at a conserved non-Glycine residue within the collagen triple-helical region containing Gly-X-Y repeats. Although non-Glycine substitutions in this region have been reported in association with COL11A1-related disorders, substitutions of Glycine residues in these Gly-X-Y motifs represent the majority of pathogenic missense variants in the COL11A1 gene associated with Stickler syndrome (Stenson et al., 2014). In addition, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret A1353T as a variant of uncertain significance.

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