Submissions for variant NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)

gnomAD frequency: 0.00004  dbSNP: rs141395813

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV001507832	SCV001713648	uncertain significance	not provided	2019-04-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507832	SCV002301182	uncertain significance	not provided	2024-09-30	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1333 of the COL4A1 protein (p.Asp1333Asn). This variant is present in population databases (rs141395813, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163068). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV002476808	SCV002775180	uncertain significance	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	2022-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002567978	SCV003694489	likely benign	Inborn genetic diseases	2021-12-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV001507832	SCV003828157	uncertain significance	not provided	2023-10-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001507832	SCV004135589	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	COL4A1: BS1
Yale Center for Mendelian Genomics, Yale University	RCV001849517	SCV002106642	likely pathogenic	Congenital anomaly of kidney and urinary tract	2019-06-22	no assertion criteria provided	literature only