ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu)

gnomAD frequency: 0.00002  dbSNP: rs1339131805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810243 SCV000950436 uncertain significance Hermansky-Pudlak syndrome 9 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 131 of the BLOC1S6 protein (p.Lys131Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC 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 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.

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