ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3719C>A (p.Pro1240His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003398394 SCV004135595 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
GeneDx RCV003398394 SCV005382945 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing 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; Occurs in the triple helical domain at the X 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 X position is not a common mechanism of disease

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