ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)

dbSNP: rs1039244540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049550 SCV001213606 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with autosomal dominant Alport syndrome (PMID: 29098738). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 846283). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 198 of the COL4A4 protein (p.Pro198Ser).
Natera, Inc. RCV001272219 SCV001453988 uncertain significance Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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