Skip to main content

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

From: Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

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