ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) (rs587779673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000087668 SCV000695381 likely pathogenic Ehlers-Danlos syndrome, type 4 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.998G>A variant affects a conserved nucleotide, resulting in amino acid change from critical codon Gly to Asp in the triple helical region of the COL3A1 protein. 5/5 in-silico tools predict damaging outcome for this variant. This variant is not found in 121038 control chromosomes. This variant has been reported in two EDS-type IV patients and was classified as a causative mutation (Pepin_Genet Med_2014). In addition, one clinical laboratory classified this variant as pathogenic. Taken together, this variant was classified as likely pathogenic until more information becomes available.
Collagen Diagnostic Laboratory,University of Washington RCV000087668 SCV000120560 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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