ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala)

gnomAD frequency: 0.00001  dbSNP: rs747041833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710881 SCV000841189 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Invitae RCV000710881 SCV002112592 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1570 of the COL4A5 protein (p.Pro1570Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 585547). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001278792 SCV001465825 uncertain significance X-linked Alport syndrome 2020-08-14 no assertion criteria provided clinical testing

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