ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2090_2094del (p.Met697fs)

dbSNP: rs1032570128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384668 SCV001584240 pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HPS3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Met697Lysfs*59) in the HPS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS3 are known to be pathogenic (PMID: 11590544).
Baylor Genetics RCV003473954 SCV004200012 likely pathogenic Hermansky-Pudlak syndrome 3 2024-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003473954 SCV005662873 likely pathogenic Hermansky-Pudlak syndrome 3 2024-03-06 criteria provided, single submitter clinical testing

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