ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.256_264dup (p.Trp86_Ala88dup)

dbSNP: rs1208203730
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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 RCV001880206 SCV002278969 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing This variant, c.256_264dup, results in the insertion of 3 amino acid(s) to the HPS6 protein (p.Trp86_Ala88dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with HPS6-related conditions. ClinVar contains an entry for this variant (Variation ID: 988873). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Birmingham Platelet Group; University of Birmingham RCV001270599 SCV001450898 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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