ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)

dbSNP: rs751205887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789039 SCV000928380 likely pathogenic Stickler syndrome, type I, nonsyndromic ocular 2018-10-10 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3
3billion RCV000789039 SCV005903733 uncertain significance Stickler syndrome, type I, nonsyndromic ocular 2023-07-10 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.74; 3Cnet: 0.13). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COL2A1 related disorder (ClinVar ID: VCV000637048 /PMID: 34008892). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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