ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)

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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 RCV003083604 SCV003460317 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1519 of the COL4A4 protein (p.Thr1519Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs770268591, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with COL4A4-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.
GeneDx RCV003083604 SCV005078431 uncertain significance not provided 2024-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005028186 SCV005653773 uncertain significance Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-05-20 criteria provided, single submitter clinical testing

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