ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.82+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003641244 SCV004386862 likely pathogenic Hermansky-Pudlak syndrome 9 2023-10-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the BLOC1S6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BLOC1S6 are known to be pathogenic (PMID: 10610180, 21665000, 22461475). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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