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
Collagen Diagnostic Laboratory,University of Washington RCV000087668 SCV000120560 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America 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.

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