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

gnomAD frequency: 0.00019  dbSNP: rs143206624

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439022	SCV000535197	uncertain significance	not provided	2023-09-11	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Acke et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680456	SCV000807829	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000439022	SCV002444211	likely benign	not provided	2023-12-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022502	SCV004926772	uncertain significance	Inborn genetic diseases	2022-06-30	criteria provided, single submitter	clinical testing	The c.4802C>A (p.T1601N) alteration is located in exon 63 (coding exon 63) of the COL11A1 gene. This alteration results from a C to A substitution at nucleotide position 4802, causing the threonine (T) at amino acid position 1601 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004533127	SCV004121446	uncertain significance	COL11A1-related disorder	2024-03-27	no assertion criteria provided	clinical testing	The COL11A1 c.4802C>A variant is predicted to result in the amino acid substitution p.Thr1601Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.