ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314457 SCV004013837 uncertain significance Marshall syndrome criteria provided, single submitter clinical testing The missense variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.94; 3Cnet: 0.96). A different missense change at the the same codon (p.Gly1531Ala) has been reported to be associated with COL11A1-related disorder (ClinVar ID: VCV001492520). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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