ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val)

gnomAD frequency: 0.00020  dbSNP: rs148781420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486979 SCV000573573 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing The G607V variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G607V variant is observed in 4/9448 (0.04%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The G607V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G607V as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000486979 SCV002214666 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004186 SCV005632425 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 2024-06-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535533 SCV004113430 uncertain significance COL4A1-related disorder 2024-06-14 no assertion criteria provided clinical testing The COL4A1 c.1820G>T variant is predicted to result in the amino acid substitution p.Gly607Val. This variant has been reported in an individual with chronic kidney disease (Table S3, Bleyer et al. 2022. PubMed ID: 35325889). This variant disrupts a glycine residue within the conserved collagen triple-helical domain (https://www.uniprot.org/). However, this variant is also reported in 0.061% of alleles in individuals of African descent in gnomAD and is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/423825/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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