ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002904077 SCV003254784 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1093 of the COL4A2 protein (p.Ile1093Val). This variant is present in population databases (rs752903694, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2047140). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL4A2 protein function with a negative predictive value of 95%. 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.
Revvity Omics, Revvity RCV003138387 SCV003828186 uncertain significance Porencephaly 2 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003269310 SCV003950085 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.3277A>G (p.I1093V) alteration is located in exon 36 (coding exon 35) of the COL4A2 gene. This alteration results from a A to G substitution at nucleotide position 3277, causing the isoleucine (I) at amino acid position 1093 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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