ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)

gnomAD frequency: 0.00019  dbSNP: rs142770543
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296689 SCV000379052 benign Type II Collagenopathies 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000351659 SCV000379053 uncertain significance Stickler syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000976095 SCV000564898 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763850 SCV000894780 uncertain significance Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000976095 SCV001123990 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000976095 SCV003828112 uncertain significance not provided 2019-02-13 criteria provided, single submitter clinical testing

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