Submissions for variant NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)

dbSNP: rs146134172

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000983902	SCV001131949	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000983902	SCV001143214	benign	not provided	2019-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114940	SCV001272863	benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	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 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	RCV002249594	SCV001272864	benign	Brain small vessel disease 1 with or without ocular anomalies	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000983902	SCV001501500	likely benign	not provided	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000983902	SCV002015624	likely benign	not provided	2021-05-14	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
New York Genome Center	RCV002249594	SCV002097983	uncertain significance	Brain small vessel disease 1 with or without ocular anomalies	2020-06-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918610	SCV004728748	benign	COL4A1-related condition	2019-05-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).