ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4354C>T (p.Arg1452Trp) (rs370966667)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725854 SCV000339956 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000725854 SCV000535469 uncertain significance not provided 2018-10-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A2 gene. The R1559W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, it is classified in ClinVar as a variant of uncertain significance by two other clinical laboratories (ClinVar SCV000339956.1, SCV000462246.2, SCV000462247.2, SCV000462248.2, SCV000462249.2, SCV000462250.2; Landrum et al., 2016), although additional evidence is not available. The R1559W variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Furthermore, R1559W 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, and this substitution occurs at a position that is conserved in mammals. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is 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 RCV000356933 SCV000462246 uncertain significance Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259748 SCV000462247 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316797 SCV000462248 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359864 SCV000462249 uncertain significance Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267958 SCV000462250 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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