ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)

gnomAD frequency: 0.00007  dbSNP: rs368480491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733081 SCV001983239 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing Observed with a COL4A4 variant in a patient with Alport syndrome in published literature (Gillion et al., 2018); however, clinical data are absent or limited; 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; This variant is associated with the following publications: (PMID: 29854973)
Labcorp Genetics (formerly Invitae), Labcorp RCV001733081 SCV002352559 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing

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