ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val)

dbSNP: rs587779582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000087532 SCV005061587 likely pathogenic Ehlers-Danlos syndrome, type 4 2024-06-18 criteria provided, single submitter clinical testing Heterozygous variant NM_000090:c.3104G>T (p.Gly1035Val) in the COL3A1 gene was found on WES data in female proband (43 y.o., Caucasian) with Ehlers-Danlos syndrome, vascular type. This variant is absent in The Genome Aggregation Database (gnomAD) v2.1.1 and v4.1.0 (Date of access with 17-06-2024). Clinvar contains an entry for this variant (Variation ID: 101294). This variant has been reported in 1 study cohort (PMID: 24922459). Most in silico predictors show pathogenic result of the protein change (varsome.com). Alternative missense changes c.3103G>A (p.Gly1035Ser) and c.3103G>T p.Gly1035Cys) with same predicted impact have been observed by other researchers. In accordance with ACMG(2015) criteria this variant is classified as Likely Pathogenic with following criteria selected: PM2, PM1, PM5_Supporting, PP2, PP3, PP5.
Collagen Diagnostic Laboratory, University of Washington RCV000087532 SCV000120419 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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