ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4330C>T (p.Arg1444Trp) (rs141254777)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766647 SCV000589862 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing The R1551W variant of uncertain significance in the COL11A2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant was not observed at anysignificant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; ExomeVariant Server). The R1551W variant is a non-conservative amino acid substitution, which is likely to impactsecondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, thissubstitution occurs at a position where only amino acids with similar properties to Arginine (R) are tolerated acrossspecies. Finally, in silico analysis predicts this variant is probably damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Illumina Clinical Services Laboratory,Illumina RCV000295270 SCV000462256 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352446 SCV000462257 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391825 SCV000462258 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294143 SCV000462259 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337188 SCV000462260 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000498284 SCV000711001 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing The p.Arg1551Trp variant in COL11A2 has been previously reported by our laborato ry in one individual with hearing loss due to an alternate genetic etiology. The variant has also been identified in 12/66340 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs141254777) . Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical signi ficance of the p.Arg1551Trp variant is uncertain.

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