ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306630 SCV002602659 likely pathogenic Hermansky-Pudlak syndrome 3 2022-01-24 criteria provided, single submitter clinical testing NM_032383.3(HPS3):c.2080A>T(R694*) is expected to be pathogenic in the context of Hermansky-Pudlak syndrome type 3. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HPS3, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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