Submissions for variant NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)

gnomAD frequency: 0.00274  dbSNP: rs34004222

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177132	SCV000228962	likely benign	not specified	2014-10-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002247587	SCV000382571	benign	Brain small vessel disease 1 with or without ocular anomalies	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 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	RCV000378889	SCV000382572	benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	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 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	RCV002247587	SCV000382573	likely benign	Brain small vessel disease 1 with or without ocular anomalies	2016-06-14	criteria provided, single submitter	clinical testing
Rare Disease Group, Clinical Genetics, Karolinska Institutet	RCV000677255	SCV000681432	uncertain significance	Optic nerve hypoplasia		criteria provided, single submitter	research
Invitae	RCV000877903	SCV001020714	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001171323	SCV001328270	uncertain significance	Chronic kidney disease	2020-05-28	criteria provided, single submitter	research	PP2, PP3, BP6
GeneDx	RCV000877903	SCV001895567	benign	not provided	2019-03-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32172663, 32040484, 30653986, 30467950, 29507195)
CeGaT Center for Human Genetics Tuebingen	RCV000877903	SCV002822101	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	COL4A1: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000877903	SCV004563917	likely benign	not provided	2023-08-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000177132	SCV002034985	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000877903	SCV002035816	likely benign	not provided		no assertion criteria provided	clinical testing