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. 2021 May 8;185(7):2241–2249. doi: 10.1002/ajmg.a.62221

TABLE 2.

Summary of pathogenic KDELR2 variant alleles

Family Individual Ethnicity Position (hg19) Nucleotide change Protein change Zygosity gnomAD allele count REVEL score CADD score ACMG classification
This study
1 P1 Pakistani Chr7:6523676 G > A c.13C > T p.Arg5Trp hmz 0 htz, 0 hmz 0.64 35 PP1, PM2
1 P2 Pakistani Chr7:6523676 G > A c.13C > T p.Arg5Trp hmz 0 htz, 0 hmz 0.64 35 PP1, PM2
2 P3 Turkish Chr7:6505821 T > C c.485A > G p.Tyr162Cys hmz 0 htz, 0 hmz 0.576 32 PM2
van Dijk et al., 2020
1 P1 Pakistani Chr7:6505858 G > GG c.448dupC p.His150fs*24 hmz 0 htz, 0 hmz — — PM2
2 P2‐1 Dutch Chr7:6523655 G > C c.34C > G p.His12Asp hmz 0 htz, 0 hmz 0.776 28 PP1, PM2
2 P2‐2 Dutch Chr7:6523655 G > C c.34C > G p.His12Asp hmz 0 htz, 0 hmz 0.776 28 PP1, PM2
3 P3 Spanish Chr7:6505908 G > A c.398C > T p.Pro133Leu hmz 0 htz, 0 hmz 0.863 30 PM2
4 P4‐1 Dutch Chr7:6523655 G > CChr7:6505946 C > T c.34C > G c.360G > A p.His12Asp p.Trp120* cmp htz 0 htz, 0 hmz 0 htz, 0 hmz 0.776; — 2841 PP1, PM2
4 P4‐2 Dutch Chr7:6523655 G > CChr7:6505946 C > T c.34C > G c.360G > A p.His12Asp p.Trp120* cmp htz 0 htz, 0 hmz 0 htz, 0 hmz 0.776; — 2841 PP1, PM2

Abbreviations: CADD, Combined Annotation‐Dependent Depletion; cmp htz, compound heterozygous; hmz, homozygous; htz, heterozygous; REVEL, rare exome variant ensemble learner.