ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter)

gnomAD frequency: 0.00001  dbSNP: rs759015758
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824566 SCV000965468 uncertain significance Hermansky-Pudlak syndrome 9 2022-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln141*) in the BLOC1S6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the BLOC1S6 protein. This variant is present in population databases (rs759015758, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. ClinVar contains an entry for this variant (Variation ID: 666136). 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.

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