ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs)

dbSNP: rs773968140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942298 SCV002229308 pathogenic not provided 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu363Argfs*4) in the HPS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS4 are known to be pathogenic (PMID: 12664304). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1455295). This variant has not been reported in the literature in individuals affected with HPS4-related conditions. This variant is present in population databases (rs773968140, gnomAD 0.02%).
Baylor Genetics RCV003471166 SCV004192348 likely pathogenic Hermansky-Pudlak syndrome 4 2023-05-28 criteria provided, single submitter clinical testing

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