ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.82+6del

gnomAD frequency: 0.00008  dbSNP: rs779246428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247039 SCV001420437 uncertain significance Hermansky-Pudlak syndrome 9 2022-06-27 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the BLOC1S6 gene. It does not directly change the encoded amino acid sequence of the BLOC1S6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs779246428, gnomAD 0.03%). 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: 971290). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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