ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002577323 SCV002932248 uncertain significance Hermansky-Pudlak syndrome 9 2022-05-16 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C15"). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 37 of the BLOC1S6 protein (p.Gly37Arg). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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