ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)

gnomAD frequency: 0.00004  dbSNP: rs104886071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991639 SCV001143262 uncertain significance not provided 2019-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991639 SCV001607018 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000991639 SCV005386109 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Department of Clinical Genetics, Medical University of Lodz RCV005055448 SCV005689544 likely benign X-linked Alport syndrome 2025-02-11 criteria provided, single submitter clinical testing

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