ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) (rs141817156)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726651 SCV000701961 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000432780 SCV000535806 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The F401I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project, Exome Aggregation Consortium (ExAC) and the 1000 Genomes Project reports this variant was observed in 0.3-0.5% alleles from individuals of African ancestry, indicating it may be a rare (benign) variant in this population. The F401I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, this substitution occurs at a position that only is conserved in mammals. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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