ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser)

gnomAD frequency: 0.00002  dbSNP: rs373131870
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598509 SCV000707636 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV000598509 SCV002296153 uncertain significance not provided 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1033 of the COL4A1 protein (p.Pro1033Ser). This variant is present in population databases (rs373131870, gnomAD 0.007%). 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: 501320). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002483639 SCV002782613 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 2022-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532581 SCV003552398 uncertain significance Inborn genetic diseases 2021-01-26 criteria provided, single submitter clinical testing The c.3097C>T (p.P1033S) alteration is located in exon 37 (coding exon 37) of the COL4A1 gene. This alteration results from a C to T substitution at nucleotide position 3097, causing the proline (P) at amino acid position 1033 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.