ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)

dbSNP: rs587779498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000087432 SCV000492941 likely pathogenic Ehlers-Danlos syndrome, type 4 2014-12-04 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198513 SCV001369473 likely pathogenic Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000087432 SCV002496066 likely pathogenic Ehlers-Danlos syndrome, type 4 2022-01-31 criteria provided, single submitter clinical testing COL3A1 NM_000090.3 exon 16 p.Gly351Val (c.1052G>T): This variant has been reported in the literature in 2 individuals with features suggestive of or consistent with vascular Ehlers-Danlos syndrome (Pepin 2014 PMID:24922459; Lumi 2021 PMID:34011391). This variant is absent from large control databases but is present in ClinVar (Variation ID:101195). Evolutionary conservation and computational prediction tools suggest that this variant impacts the protein. Of note, this variant alters a Glycine in the Gly-X-Y repeat sequence of COL3A1's triple-helical region; Glycine residues at these positions are known to be critical for proper protein structure and stability (Mizuno 2013 PMID:23645670). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224147 SCV003919827 likely pathogenic Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2022-02-04 criteria provided, single submitter clinical testing This variant has been reported in the literature in 2 individuals with features suggestive of or consistent with vascular Ehlers-Danlos syndrome (Pepin 2014 PMID:24922459; Lumi 2021 PMID:34011391). This variant is absent from large control databases but is present in ClinVar (Variation ID:101195). Evolutionary conservation and computational prediction tools suggest that this variant impacts the protein. Of note, this variant alters a Glycine in the Gly-X-Y repeat sequence of COL3A1's triple-helical region; Glycine residues at these positions are known to be critical for proper protein structure and stability (Mizuno 2013 PMID:23645670). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.
Collagen Diagnostic Laboratory, University of Washington RCV000087432 SCV000120317 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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