ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4863_4867del (p.Gly1622fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003542911 SCV004246821 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the COL4A2 gene (p.Gly1622Phefs*121). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 91 amino acid(s) of the COL4A2 protein and extend the protein by 29 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. 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.

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