ClinVar Miner

Submissions for variant NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)

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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 2018-10-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BLOC1S6 gene (p.Gln141*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the BLOC1S6 protein. This variant is present in population databases (rs759015758, ExAC 0.009%). This variant has not been reported in the literature in individuals with BLOC1S6-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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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