ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV001257162 SCV001426408 pathogenic Spondyloepiphyseal dysplasia congenita 2020-02-01 no assertion criteria provided clinical testing This variant was not listed in the databases (ClinVar, LOVD). GnomAD shows no entry (very rare or private variant). Mulitple in silico analyses predict a pathogenic effect. This variant affects a Glycin-residue (aa1185) in the triple-helical region of COL2A1 and was found de novo in an affected fetus. Therefore this variant was rated pathogenic.

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