ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)

dbSNP: rs886043356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377732 SCV000339634 likely pathogenic not provided 2016-02-15 criteria provided, single submitter clinical testing
Mendelics RCV000988818 SCV001138703 likely pathogenic Stickler syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
3billion RCV003152704 SCV003841311 pathogenic Spondyloperipheral dysplasia 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.99; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000286275). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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