ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.6724G>C (p.Gly2242Arg) (rs121912837)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190693 SCV000244134 pathogenic Inborn genetic diseases 2012-10-04 criteria provided, single submitter clinical testing Co-segregation data for this variant is currently unavailable. This variant has not been detected in conjunction with a pathogenic mutation to date.This variant was previously reported in the SNPDatabase as rs121912837 (Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID: 135). Available from: Accessed Jan 2012). To our knowledge, this alteration has not been previously reported in the NHLBI Exome Sequencing Project (ESP) and 1000 Genome databases. This nucleotide position is well conserved in available vertebrate species. This amino acid position is highly conserved in available vertebrate species.This alteration is predicted to be probably damaging with a score of 0.999 (sensitivity: 0.09; specificity: 0.99)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 2.73)

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