ClinVar Miner

Submissions for variant NM_201280.3(BLOC1S5):c.345del (p.Val116fs)

dbSNP: rs1763106978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001260551 SCV001197996 pathogenic Hermansky-Pudlak syndrome 2020-04-09 no assertion criteria provided clinical testing One patient harbored a homozygous 1 bp deletion in exon 4 of BLOC1S5, NM_201280.2:c.345del p.(Val116Serf19*). ACMG classification is in favor of a pathogenic variant (PVS1, PS4, PM2). She had pigmented skin, blond hair and brown iris, and numerous pigmented naevi. She had mild ocular albinism including nystagmus, grade 1 retinal hypopigmentation, iris transillumination, optic nerve decussation anomalies on visual evoked potentials, strabismus, photophobia, and visual acuity of 6/10 on both eyes. The fovea was normal (Figure 2). Clinical report indicated important epistaxis, mostly in childhood, easy or unexplained bruising, menorrhagia improved by contraception, excessive blood loss after deliveries, surgery and dental extraction, as well as abdominal pain, dyspnea, and recurrent infections (pneumonia, herpes, conjunctivitis). These features suggested a syndromic form of albinism. Functionnal analysis of another LOF variant in BLOC1S5 are in favor of the involvment of BLOC1S5 in a new form of Hermansky-Pudlak Syndrome : HPS11.
OMIM RCV001290298 SCV001478329 pathogenic Hermansky-Pudlak syndrome 11 2021-01-29 no assertion criteria provided literature only

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