Table 4 Variants along with frequency in the general population, based on genomAD; pathogenicity based on our study and ClinVar; and signs and symptoms attributed to the variant
Gene transcript (RefSeq) | Variant | Variant allele frequency (gnomAD) | Pathogenicity (ClinVar) | Zygosity | Attributed signs and symptoms | Pathogenicity based on our findings |
|---|---|---|---|---|---|---|
GHR NM_001242399.2 | c.556C>T p.Arg186Cys | 0.003922 | Uncertain significance | het | short stature, partial insensitivity to growth hormone | Likely pathogenic |
ACAN NM_013227.3 | c.7418G>A p.R2473Q | 0.0001071 | Undefined/unknown | het | advance bone age, short stature | likely pathogenic |
SRCAP NM_006662.2 | c.4259C>T p.S1420F | 0.00001193 | Undefined/unknown | het | long eyelashes, seemingly wide columella, slightly short philtrum, mildly low levels of GH and IGF1, short stature | likely pathogenic |
AGBL1 NM_152336.2 | c.2969G>C p.C990S | 0.001130 | pathogenic | het | Undefined | Undefined |