ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.2979_2982del (p.Cys993fs) (rs886041723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000318415 SCV000330460 pathogenic not provided 2016-04-22 criteria provided, single submitter clinical testing The c.2979_2982delTTTG pathogenic variant in the HPS5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2979_2982delTTTG variant causes a frameshift starting with codon Cysteine, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Cys993TrpfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2979_2982delTTTG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2979_2982delTTTG as a pathogenic variant.
Laboratoire de Génétique Moléculaire,CHU Bordeéaux RCV000495769 SCV000579439 pathogenic Hermansky-Pudlak syndrome 5 2017-03-14 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851767 SCV000899654 pathogenic Hermansky-Pudlak syndrome 2019-02-01 criteria provided, single submitter research

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