ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.701G>A (p.Arg234Gln)

gnomAD frequency: 0.00002  dbSNP: rs748904322
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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 RCV002537858 SCV003456198 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 234 of the HPS3 protein (p.Arg234Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs748904322, ExAC 0.003%). This variant has not been reported in the literature in individuals with HPS3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera, Inc. RCV001279647 SCV001466760 uncertain significance Hermansky-Pudlak syndrome 2020-06-09 no assertion criteria provided clinical testing

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