ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)

gnomAD frequency: 0.00001  dbSNP: rs779791657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221781 SCV001393843 uncertain significance Hermansky-Pudlak syndrome 9 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 39 of the BLOC1S6 protein (p.Ile39Val). This variant is present in population databases (rs779791657, gnomAD 0.002%). 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: 950137). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GenomeConnect - Invitae Patient Insights Network RCV001221781 SCV001749506 not provided Hermansky-Pudlak syndrome 9 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-01-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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