ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer)

dbSNP: rs2136637244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556044 SCV004295017 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys57*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of COL2A1-related disorders (PMID: 11812423). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018929 SCV000039214 pathogenic Stickler syndrome, type I, nonsyndromic ocular 2006-07-01 no assertion criteria provided literature only

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