Submissions for variant NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)

gnomAD frequency: 0.00274  dbSNP: rs145901197

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179579	SCV000231845	benign	not specified	2014-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364746	SCV000346369	likely benign	Fibrochondrogenesis 1	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000306668	SCV000346371	likely benign	Stickler syndrome type 2	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000897631	SCV000729119	benign	not provided	2021-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000897631	SCV001041786	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020151	SCV004926767	uncertain significance	Inborn genetic diseases	2023-09-23	criteria provided, single submitter	clinical testing	The c.4468A>G (p.I1490V) alteration is located in exon 60 (coding exon 60) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 4468, causing the isoleucine (I) at amino acid position 1490 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV000897631	SCV005259187	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000179579	SCV001918700	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000179579	SCV001966011	benign	not specified		no assertion criteria provided	clinical testing