ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) (rs587779650)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246003 SCV000319353 likely pathogenic Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Fulgent Genetics,Fulgent Genetics RCV000087626 SCV000894247 pathogenic Ehlers-Danlos syndrome, type 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000087626 SCV001397996 pathogenic Ehlers-Danlos syndrome, type 4 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 324 of the COL3A1 protein (p.Gly324Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Ehlers-Danlos syndrome, vascular type (PMID: 23234825, 25758994, 22713205, 17053184). ClinVar contains an entry for this variant (Variation ID: 101388). Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL3A1, variants that affect these glycine residues are significantly enriched in individuals with disease (PMID: 24922459, 25758994) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.
Collagen Diagnostic Laboratory,University of Washington RCV000087626 SCV000120517 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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