Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratoire de Genetique Moleculaire, |
RCV001089653 | SCV001192838 | pathogenic | Hermansky-Pudlak syndrome 8 | 2020-03-30 | no assertion criteria provided | clinical testing | This male patient was born to related parents from Portuguese descent, both with brown hair. Ocular albinism was suspected due to ocular amblyopia, visual acuity of 20/50 (Snellen), bilateral iris transillumination and foveolar shaking on the Optical Coherence Tomography (OCT). His hair was golden and eyes were pale brown. He showed no sign of excessive bleeding although platelet aggregation was low (Table 1). NGS analysis identified a homozygous 24 bp in frame deletion in the coding sequence of BLOC1S3, NM_212550.3:c.444_467del (p.(Gln150_Ala157del)). This deletion is reported once, at heterozygous state, in the GnomAD database and is absent from EVS. It involves two highly conserved amino acids, Leu146 and Gln150 within a domain of unknown function (Figure1). ACMG Classification is in favor of a VOUS (PM2, PM4, PP3). |