ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1766C>T (p.Ala589Val)

gnomAD frequency: 0.00009  dbSNP: rs528827909
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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 RCV001373901 SCV001570640 uncertain significance not provided 2022-06-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 589 of the HPS1 protein (p.Ala589Val). This variant is present in population databases (rs528827909, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with HPS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063997). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002499770 SCV002816054 uncertain significance Hermansky-Pudlak syndrome 1 2024-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831329 SCV002092598 uncertain significance Hermansky-Pudlak syndrome 2020-03-31 no assertion criteria provided clinical testing

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