ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly)

gnomAD frequency: 0.00014  dbSNP: rs199539580
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321904 SCV000346566 uncertain significance Stickler syndrome type 2 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.
Illumina Laboratory Services, Illumina RCV000376489 SCV000346567 uncertain significance Fibrochondrogenesis 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 RCV001569728 SCV001793861 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Invitae RCV001569728 SCV002426120 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519363 SCV003703482 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.845A>G (p.E282G) alteration is located in exon 6 (coding exon 6) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 845, causing the glutamic acid (E) at amino acid position 282 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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