ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) (rs868417981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781310 SCV000919236 likely pathogenic Achondrogenesis, type II 2018-07-05 criteria provided, single submitter clinical testing Variant summary: COL2A1 c.1520G>A (p.Gly507Glu) results in a non-conservative amino acid change located in the Gly-X-Y motif of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 22098 control chromosomes. To our knowledge, no occurrence of c.1520G>A in individuals affected with Achondrogenesis, type II and no experimental evidence demonstrating its impact on protein function have been reported. Alteration of the same codon, c.1519G>A (p.Gly507Arg) has been reported in 1 French patient presented with clinical features suggestive of SEMD Strudwick type (Barat-Houari, 2016). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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