ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.905C>T (p.Ser302Leu)

gnomAD frequency: 0.00004  dbSNP: rs781327575
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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 RCV001369333 SCV001565769 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 302 of the HPS3 protein (p.Ser302Leu). This variant is present in population databases (rs781327575, gnomAD 0.1%). 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: 1059965). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001826077 SCV002081509 uncertain significance Hermansky-Pudlak syndrome 2020-03-24 no assertion criteria provided clinical testing

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