ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) (rs143206624)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439022 SCV000535197 uncertain significance not provided 2018-11-08 criteria provided, single submitter clinical testing The T1601N variant in the COL11A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T1601N variant is observed in 9/30,780 (0.0292%) alleles from individuals of South Asian background and in 55/276,926 (0.0199%) global alleles in large population cohorts (Lek et al., 2016). The T1601N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret T1601N as a variant of uncertain significance
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680456 SCV000807829 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097884 SCV001254210 uncertain significance Fibrochondrogenesis 1 2018-01-15 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.
Illumina Clinical Services Laboratory,Illumina RCV001097885 SCV001254211 uncertain significance Stickler syndrome type 2 2018-01-15 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.

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