ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)

gnomAD frequency: 0.00001  dbSNP: rs372419698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587154 SCV001820835 likely pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Labcorp Genetics (formerly Invitae), Labcorp RCV001587154 SCV002277126 pathogenic not provided 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 838 of the COL11A1 protein (p.Gly838Glu). This variant is present in population databases (rs372419698, gnomAD 0.007%). This missense change has been observed in individual(s) with autosomal dominant Stickler syndrome (internal data). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1216773). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt COL11A1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen RCV001825009 SCV002075112 not provided Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 06-17-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Autoinflammatory diseases unit, CHU de Montpellier RCV004770182 SCV005381979 likely pathogenic Stickler syndrome type 2 2024-09-25 no assertion criteria provided clinical testing

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