ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)

gnomAD frequency: 0.00001  dbSNP: rs1478574193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852216 SCV000899921 likely pathogenic Hermansky-Pudlak syndrome 2019-02-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000852216 SCV005075835 pathogenic Hermansky-Pudlak syndrome 2024-04-02 criteria provided, single submitter clinical testing Variant summary: HPS6 c.779G>A (p.Gly260Glu) results in a non-conservative amino acid change located in the BLOC-2 complex member HPS6, N-terminal domain (IPR046823) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250764 control chromosomes. c.779G>A has been reported in the literature as a biallelic homozygous genotype in individuals affected with Hermansky-Pudlak Syndrome (example, Hull_2016 cited in Han_2018, Downes_2019). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 31064749, 30369044, 31898847, 26823395, 35054407). ClinVar contains an entry for this variant (Variation ID: 627382). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005029422 SCV005663040 pathogenic Hermansky-Pudlak syndrome 6 2024-04-03 criteria provided, single submitter clinical testing

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