ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)

dbSNP: rs1553193910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591257 SCV000704000 pathogenic not provided 2018-07-23 criteria provided, single submitter clinical testing
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000624108 SCV000740282 likely pathogenic Marshall syndrome 2017-11-09 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001799515 SCV001739307 pathogenic Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 2020-09-11 criteria provided, single submitter clinical testing
DASA RCV001824151 SCV002073773 likely pathogenic Stickler syndrome type 2 2022-02-05 criteria provided, single submitter clinical testing The c.4547G>T;p.(Gly1516Val) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (PMID: 20513134) - PS4_supporting. The variant is located in a mutational hot spot and/or critical and well-established functional domain (collagen helix of α1(XI) collagen) - PM1. This variant is not present in population databases (rs1553193910; gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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