ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340734 SCV004047414 likely pathogenic Hermansky-Pudlak syndrome 9 criteria provided, single submitter clinical testing The variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Glycine 11, changes this amino acid to Aspartic acid residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Gly11AspfsTer20. The variant is novel (not in any individuals) in 1000 Genomes. Spasticity has not been reported previously with BLOC1S6. For these reasons, this variant has been classified as Likely pathogenic. .

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