ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) (rs149558726)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000384187 SCV000346541 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275597 SCV000346542 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330638 SCV000346543 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000494431 SCV000581815 uncertain significance not provided 2018-10-22 criteria provided, single submitter clinical testing The R476H variant of uncertain significance in the COL11A1 gene has not been published as pathogenic or been reported as benign to our knowledge. R476H was observed in 11/23,376 (0.05%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The R476H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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