ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs)

dbSNP: rs749632423
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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 RCV001933539 SCV002202270 pathogenic not provided 2023-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn623Argfs*14) 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). This variant is present in population databases (rs749632423, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HPS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1427081).
Baylor Genetics RCV003475178 SCV004200020 likely pathogenic Hermansky-Pudlak syndrome 3 2023-07-18 criteria provided, single submitter clinical testing

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