ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306360 SCV002601458 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing 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; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002306360 SCV003448689 benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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