ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln)

dbSNP: rs145937442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990144 SCV002233801 uncertain significance Hermansky-Pudlak syndrome 9 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 154 of the BLOC1S6 protein (p.Arg154Gln). This variant is present in population databases (rs145937442, gnomAD 0.1%). 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: 1450432). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002564357 SCV003619897 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.461G>A (p.R154Q) alteration is located in exon 5 (coding exon 5) of the BLOC1S6 gene. This alteration results from a G to A substitution at nucleotide position 461, causing the arginine (R) at amino acid position 154 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001990144 SCV003920459 uncertain significance Hermansky-Pudlak syndrome 9 2021-03-30 criteria provided, single submitter clinical testing BLOC1S6 NM_012388.3 exon 5 p.Arg154Gln (c.461G>A): This variant has not been reported in the literature but is present in 0.1% (25/24966) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-45898654-G-A?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV004591659 SCV005078950 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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