ClinVar Miner

Submissions for variant NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter)

dbSNP: rs567410388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702991 SCV005202216 pathogenic Hermansky-Pudlak syndrome 2024-07-31 criteria provided, single submitter clinical testing Variant summary: BLOC1S3 c.101C>A (p.Ser34X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00015 in 197734 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in BLOC1S3 causing Hermansky-Pudlak Syndrome (0.00015 vs 0.00016). To our knowledge, no occurrence of c.101C>A in individuals affected with Hermansky-Pudlak Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. However, a downstream truncation c.131C>A, p.S44X has been experimentally demonstrated to result in nonsense mediated decay (PMID: 22709368), which suggests the present variant p.Ser34X is also likely to result in nonsense mediated decay. Further, p.Ser34X removes >85% of the amino acid sequence. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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