ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)

dbSNP: rs1878244032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV002249783 SCV001368268 benign Brain small vessel disease 1 with or without ocular anomalies 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Benign. This variant was inherited from a parent.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559259 SCV002999094 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 931171). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL4A1 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. This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 695 of the COL4A1 protein (p.Pro695Ala). This variant is not present in population databases (gnomAD no frequency).

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