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. 2022 May 6;9:865034. doi: 10.3389/fmed.2022.865034

Table 4.

Average age at kidney failure in males with pathogenic COL4A5 variants in LOVD in 2021 compared with 2016.

Up to 2016
(n = 1,168) (7)
2021 (n = 35) OR (95%CI), P-value
Missense 504 (43%) 20 (57%) OR = 0.57 (0.29–1.12), p = 0.10
Non-missense (severe) 664 (57%) 15 (43%)
Ave age at kidney failure 24.4 ± 7.8 years 29.2 ± 14.6 years p = 0.0026

Relatively more missense (non-severe) variants were detected in 2021 which was consistent with the later age at onset of kidney failure. This may be because families with very severe disease had already been identified.