ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002792069 SCV003202197 uncertain significance Hermansky-Pudlak syndrome 9 2022-05-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 23 of the BLOC1S6 protein (p.Gly23Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003308293 SCV003988834 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.68G>A (p.G23E) alteration is located in exon 1 (coding exon 1) of the BLOC1S6 gene. This alteration results from a G to A substitution at nucleotide position 68, causing the glycine (G) at amino acid position 23 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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