ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) (rs587779703)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287230 SCV001473897 likely pathogenic none provided 2020-01-30 criteria provided, single submitter clinical testing The COL3A1 c.3572G>A; p.Gly1191Asp variant (rs587779703) is reported in the literature in an individual affected with vascular Ehlers-Danlos syndrome (Pepin 2014). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant alters a highly conserved glycine residue in the triple helical domain, which has been shown to disrupt the formation of the collagen helix and lead to connective tissue disorders (Persikov 2004, Weerakkody 2016). Based on available information, this variant is considered to be likely pathogenic. References: Pepin MG et al. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med. 2014 Dec;16(12):881-8. Persikov A et al. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat. 2004 Oct;24(4):330-7. Weerakkody R et al. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med. 2016; 18(11):1119-1127.
Collagen Diagnostic Laboratory,University of Washington RCV000087705 SCV000120598 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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