ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu)

dbSNP: rs1894463062
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309769 SCV001499278 uncertain significance Hermansky-Pudlak syndrome 9 2020-02-27 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BLOC1S6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 145 of the BLOC1S6 protein (p.Lys145Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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