ClinVar Miner

Submissions for variant NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg)

gnomAD frequency: 0.00014  dbSNP: rs948696809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944178 SCV002209658 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 150 of the BLOC1S3 protein (p.Gln150Arg). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BLOC1S3-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV002491993 SCV002796359 uncertain significance Hermansky-Pudlak syndrome 8 2022-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561434 SCV003690448 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.449A>G (p.Q150R) alteration is located in exon 2 (coding exon 1) of the BLOC1S3 gene. This alteration results from a A to G substitution at nucleotide position 449, causing the glutamine (Q) at amino acid position 150 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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