ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) (rs587779495)

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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 RCV000087429 SCV000120313 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000087429 SCV000695371 likely pathogenic Ehlers-Danlos syndrome, type 4 2016-05-23 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.3437G>A (p.Gly1146Glu) variant involves the alteration of a conserved nucleotide and affects a Glycine, which is predicted to be critical in COL3A1 protein. 5/5 in silico tools predict a damaging outcome for this variant. This variant has been reported in one patient without clinical information and is absent in 118370 control chromosomes. One clinical diagnostic laboratory has classified this variant as pathogenic, without evidence to independently evaluate. Taken together, this variant is classified as likely pathogenic.

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